From 7b25e59039e1310c0847531cb81833729611cd53 Mon Sep 17 00:00:00 2001 From: Mihai Todor Date: Thu, 13 Jun 2024 16:28:46 +0100 Subject: [PATCH] Fix FHIR structure --- app/common.py | 17 - app/endpoints.py | 58 +- .../find_subject_dx_implications/1.json | 18 +- .../find_subject_dx_implications/2.json | 116 +- .../find_subject_dx_implications/3.json | 4228 +++++++++-------- .../find_subject_dx_implications/4.json | 312 +- .../find_subject_dx_implications/5.json | 3474 ++++++++------ .../find_subject_tx_implications/1.json | 118 +- .../find_subject_tx_implications/2.json | 82 +- .../find_subject_tx_implications/3.json | 850 ++-- .../find_subject_tx_implications/4.json | 400 +- .../find_subject_tx_implications/5.json | 54 +- .../find_subject_tx_implications/6.json | 1332 +++--- .../find_subject_tx_implications/7.json | 20 +- .../find_subject_tx_implications/8.json | 10 +- 15 files changed, 5850 insertions(+), 5239 deletions(-) diff --git a/app/common.py b/app/common.py index 803db033..057aabb4 100644 --- a/app/common.py +++ b/app/common.py @@ -879,23 +879,6 @@ def create_genotype_profile(genotype, subject, gids): return resource -def add_variation_id(resource, variation_id): - spdi_index = next((i for i, item in enumerate(resource["component"]) if item["code"]["coding"][0]["code"] == "81252-9"), None) - - for var_id in variation_id: - if spdi_index is not None: - resource["component"][spdi_index]["valueCodeableConcept"]["coding"].append( - {"system": f'{var_id["system"]}', - "code": f'{var_id["code"]}'}) - else: - resource["component"].append( - {"code": {"coding": [{"system": "http://loinc.org", - "code": "81252-9", - "display": "Discrete genetic variant"}]}, - "valueCodeableConcept": {"coding": [{"system": f'{var_id["system"]}', - "code": f'{var_id["code"]}'}]}}) - - def create_sequence_phase_relationship(subject, sequence_phase_data): resource = OrderedDict() resource["resourceType"] = "Observation" diff --git a/app/endpoints.py b/app/endpoints.py index f5121004..fc5ae849 100644 --- a/app/endpoints.py +++ b/app/endpoints.py @@ -1,5 +1,7 @@ -from flask import abort, jsonify from collections import OrderedDict + +from flask import abort, jsonify + from app import common @@ -862,8 +864,13 @@ def find_subject_tx_implications( if res["txImplicationMatches"]: ref_seq = common.get_ref_seq_by_chrom_and_build(res['genomicBuild'], res['CHROM']) for implication in res["txImplicationMatches"]: - implication_profile = common.create_tx_implication_profile_civic(implication, subject, [str(res['_id'])]) + if "variationID" in implication: + implication_profile["identifier"] = [] + for var_id in implication["variationID"]: + implication_profile["identifier"].append( + {"system": f'{var_id["system"]}', "value": f'{var_id["code"]}'}) + impl_param = { "name": "implication", "resource": implication_profile @@ -873,7 +880,6 @@ def find_subject_tx_implications( resource = common.create_fhir_variant_resource( res, ref_seq, subject) - common.add_variation_id(resource, implication["variationID"]) variant_param = { "name": "variant", "resource": resource @@ -894,6 +900,12 @@ def find_subject_tx_implications( for implication in res["txImplicationMatches"]: implication_profile = common.create_tx_implication_profile_pharmgkb(implication, subject, [str(res['_id'])]) + if "variationID" in implication: + implication_profile["identifier"] = [] + for var_id in implication["variationID"]: + implication_profile["identifier"].append( + {"system": f'{var_id["system"]}', "value": f'{var_id["code"]}'}) + impl_param = { "name": "implication", "resource": implication_profile @@ -909,8 +921,6 @@ def find_subject_tx_implications( genotype_profile = common.create_genotype_profile(res, subject, [str(res['_id'])]) - common.add_variation_id( - genotype_profile, implication["variationID"]) geno_param = { "name": "genotype", "resource": genotype_profile @@ -929,6 +939,12 @@ def find_subject_tx_implications( for res in query_results_PGKB: implication_profile = common.create_tx_implication_profile_pharmgkb(res, subject, [str(i['_id']) for i in res["patientMatches"]]) + if "variationID" in res: + implication_profile["identifier"] = [] + for var_id in res["variationID"]: + implication_profile["identifier"].append( + {"system": f'{var_id["system"]}', "value": f'{var_id["code"]}'}) + impl_param = { "name": "implication", "resource": implication_profile @@ -946,8 +962,6 @@ def find_subject_tx_implications( genotype_profile = common.create_genotype_profile(genItem, subject, [str(genItem['_id'])]) - common.add_variation_id(genotype_profile, res["variationID"]) - genotype_profiles.append(genotype_profile) if genotype_profiles: @@ -963,6 +977,12 @@ def find_subject_tx_implications( for res in query_results_CIViC: implication_profile = common.create_tx_implication_profile_civic(res, subject, [str(i['_id']) for i in res["patientMatches"]]) + if "variationID" in res: + implication_profile["identifier"] = [] + for var_id in res["variationID"]: + implication_profile["identifier"].append( + {"system": f'{var_id["system"]}', "value": f'{var_id["code"]}'}) + impl_param = { "name": "implication", "resource": implication_profile @@ -974,8 +994,6 @@ def find_subject_tx_implications( ref_seq = common.get_ref_seq_by_chrom_and_build(varItem['genomicBuild'], varItem['CHROM']) resource = common.create_fhir_variant_resource(varItem, ref_seq, subject) - common.add_variation_id(resource, res["variationID"]) - variant_fhir_profiles.append(resource) if variant_fhir_profiles: @@ -997,6 +1015,12 @@ def find_subject_tx_implications( for res in query_results: implication_profile = common.create_tx_implication_profile_civic(res, subject, [str(i['_id']) for i in res["patientMatches"]]) + if "variationID" in res: + implication_profile["identifier"] = [] + for var_id in res["variationID"]: + implication_profile["identifier"].append( + {"system": f'{var_id["system"]}', "value": f'{var_id["code"]}'}) + impl_param = { "name": "implication", "resource": implication_profile @@ -1008,8 +1032,6 @@ def find_subject_tx_implications( ref_seq = common.get_ref_seq_by_chrom_and_build(varItem['genomicBuild'], varItem['CHROM']) resource = common.create_fhir_variant_resource(varItem, ref_seq, subject) - common.add_variation_id(resource, res["variationID"]) - variant_fhir_profiles.append(resource) if variant_fhir_profiles: @@ -1110,6 +1132,12 @@ def find_subject_dx_implications( for implication in res["dxImplicationMatches"]: implication_profile = common.create_dx_implication_profile(implication, subject, [str(res['_id'])]) + if "variationID" in implication: + implication_profile["identifier"] = [] + for var_id in implication["variationID"]: + implication_profile["identifier"].append( + {"system": f'{var_id["system"]}', "value": f'{var_id["code"]}'}) + impl_param = { "name": "implication", "resource": implication_profile @@ -1118,7 +1146,6 @@ def find_subject_dx_implications( resource = common.create_fhir_variant_resource( res, ref_seq, subject) - common.add_variation_id(resource, implication["variationID"]) variant_param = { "name": "variant", "resource": resource @@ -1137,6 +1164,12 @@ def find_subject_dx_implications( for res in query_results: implication_profile = common.create_dx_implication_profile(res, subject, [str(i['_id']) for i in res["patientMatches"]]) + if "variationID" in res: + implication_profile["identifier"] = [] + for var_id in res["variationID"]: + implication_profile["identifier"].append( + {"system": f'{var_id["system"]}', "value": f'{var_id["code"]}'}) + impl_param = { "name": "implication", "resource": implication_profile @@ -1147,7 +1180,6 @@ def find_subject_dx_implications( ref_seq = common.get_ref_seq_by_chrom_and_build(varItem['genomicBuild'], varItem['CHROM']) resource = common.create_fhir_variant_resource(varItem, ref_seq, subject) - common.add_variation_id(resource, res["variationID"]) variant_param = { "name": "variant", "resource": resource diff --git a/tests/expected_outputs/find_subject_dx_implications/1.json b/tests/expected_outputs/find_subject_dx_implications/1.json index 6079d822..4cae06f7 100644 --- a/tests/expected_outputs/find_subject_dx_implications/1.json +++ b/tests/expected_outputs/find_subject_dx_implications/1.json @@ -93,6 +93,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "873683" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001252233.1" + } ] } }, @@ -214,14 +224,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000001.10:161333381:C:T", "display": "NC_000001.10:161333381:C:T" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "873683" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001252233.1" } ] } diff --git a/tests/expected_outputs/find_subject_dx_implications/2.json b/tests/expected_outputs/find_subject_dx_implications/2.json index 4e6809fd..be84ca30 100644 --- a/tests/expected_outputs/find_subject_dx_implications/2.json +++ b/tests/expected_outputs/find_subject_dx_implications/2.json @@ -5,7 +5,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6f25932091e78c68d2f", + "id": "dv-62fab6475932091e78bff0a1", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -35,7 +35,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-aad8639bd558470a9ca8612eae011065" + "reference": "Observation/dv-d9c5ad61266c4f3c90e44199a8864662" } ], "component": [ @@ -53,8 +53,8 @@ "coding": [ { "system": "http://loinc.org", - "code": "LA26333-7", - "display": "Uncertain significance" + "code": "LA6675-8", + "display": "Benign" } ] } @@ -93,6 +93,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "44641" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000351450.3" + } ] } }, @@ -100,7 +110,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-aad8639bd558470a9ca8612eae011065", + "id": "dv-d9c5ad61266c4f3c90e44199a8864662", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -192,8 +202,8 @@ "coding": [ { "system": "http://loinc.org", - "code": "LA6706-1", - "display": "heterozygous" + "code": "LA6705-3", + "display": "homozygous" } ] } @@ -212,16 +222,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000001.10:161333381:C:T", - "display": "NC_000001.10:161333381:C:T" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "873683" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001252233.1" + "code": "NC_000001.10:17380496:G:T", + "display": "NC_000001.10:17380496:G:T" } ] } @@ -237,7 +239,7 @@ ] }, "valueQuantity": { - "value": 0.5, + "value": 1.0, "unit": "relative frequency of a particular allele in the specimen", "system": "http://unitsofmeasure.org", "code": "1" @@ -253,7 +255,7 @@ } ] }, - "valueString": "C" + "valueString": "G" }, { "code": { @@ -299,9 +301,25 @@ }, "valueRange": { "low": { - "value": 161333381 + "value": 17380496 } } + }, + { + "code": { + "coding": [ + { + "system": "http://loinc.org", + "code": "92821-8", + "display": "Population allele frequency" + } + ] + }, + "valueQuantity": { + "value": 0.973659, + "system": "http://unitsofmeasure.org", + "code": "1" + } } ] } @@ -310,7 +328,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6475932091e78bff0a1", + "id": "dv-62fab6f25932091e78c68d2f", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -340,7 +358,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-d9c5ad61266c4f3c90e44199a8864662" + "reference": "Observation/dv-aad8639bd558470a9ca8612eae011065" } ], "component": [ @@ -358,8 +376,8 @@ "coding": [ { "system": "http://loinc.org", - "code": "LA6675-8", - "display": "Benign" + "code": "LA26333-7", + "display": "Uncertain significance" } ] } @@ -398,6 +416,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "873683" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001252233.1" + } ] } }, @@ -405,7 +433,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-d9c5ad61266c4f3c90e44199a8864662", + "id": "dv-aad8639bd558470a9ca8612eae011065", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -497,8 +525,8 @@ "coding": [ { "system": "http://loinc.org", - "code": "LA6705-3", - "display": "homozygous" + "code": "LA6706-1", + "display": "heterozygous" } ] } @@ -517,16 +545,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000001.10:17380496:G:T", - "display": "NC_000001.10:17380496:G:T" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "44641" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000351450.3" + "code": "NC_000001.10:161333381:C:T", + "display": "NC_000001.10:161333381:C:T" } ] } @@ -542,7 +562,7 @@ ] }, "valueQuantity": { - "value": 1.0, + "value": 0.5, "unit": "relative frequency of a particular allele in the specimen", "system": "http://unitsofmeasure.org", "code": "1" @@ -558,7 +578,7 @@ } ] }, - "valueString": "G" + "valueString": "C" }, { "code": { @@ -604,25 +624,9 @@ }, "valueRange": { "low": { - "value": 17380496 + "value": 161333381 } } - }, - { - "code": { - "coding": [ - { - "system": "http://loinc.org", - "code": "92821-8", - "display": "Population allele frequency" - } - ] - }, - "valueQuantity": { - "value": 0.973659, - "system": "http://unitsofmeasure.org", - "code": "1" - } } ] } diff --git a/tests/expected_outputs/find_subject_dx_implications/3.json b/tests/expected_outputs/find_subject_dx_implications/3.json index 2f2fb89f..5bdd97bb 100644 --- a/tests/expected_outputs/find_subject_dx_implications/3.json +++ b/tests/expected_outputs/find_subject_dx_implications/3.json @@ -5,7 +5,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab63a5932091e78bf6fdb", + "id": "dv-62fab66e5932091e78c17733", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -35,7 +35,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-aab391f842a14a79865639fc25b95ff9" + "reference": "Observation/dv-b96b0bdcbc3a4a68913378136736b773" } ], "component": [ @@ -73,8 +73,8 @@ "coding": [ { "system": "https://www.ncbi.nlm.nih.gov/medgen", - "code": "C4552100", - "display": "Lynch syndrome" + "code": "C0020445", + "display": "Familial hypercholesterolemia" } ] } @@ -93,6 +93,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "128425" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000902523.1" + } ] } }, @@ -100,7 +110,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-aab391f842a14a79865639fc25b95ff9", + "id": "dv-b96b0bdcbc3a4a68913378136736b773", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -212,16 +222,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000002.12:47795975:T:C", - "display": "NC_000002.12:47795975:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "36597" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000052942.2" + "code": "NC_000002.12:21009322:G:A", + "display": "NC_000002.12:21009322:G:A" } ] } @@ -253,7 +255,7 @@ } ] }, - "valueString": "T" + "valueString": "G" }, { "code": { @@ -265,7 +267,7 @@ } ] }, - "valueString": "C" + "valueString": "A" }, { "code": { @@ -299,7 +301,7 @@ }, "valueRange": { "low": { - "value": 47795975 + "value": 21009322 } } }, @@ -314,7 +316,7 @@ ] }, "valueQuantity": { - "value": 0.212977, + "value": 0.388555, "system": "http://unitsofmeasure.org", "code": "1" } @@ -326,7 +328,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6645932091e78c10b9a", + "id": "dv-62fab6a85932091e78c3bb46", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -356,7 +358,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-d83d284e564e4106a409fcd7bb222eb9" + "reference": "Observation/dv-6f1550b878b740c29dae310d745dbc76" } ], "component": [ @@ -394,8 +396,8 @@ "coding": [ { "system": "https://www.ncbi.nlm.nih.gov/medgen", - "code": "C4552100", - "display": "Lynch syndrome" + "code": "C0020445", + "display": "Familial hypercholesterolemia" } ] } @@ -411,9 +413,19 @@ ] }, "valueCodeableConcept": { - "text": "reviewed by expert panel" + "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "328058" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001717063.2" + } ] } }, @@ -421,7 +433,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-d83d284e564e4106a409fcd7bb222eb9", + "id": "dv-6f1550b878b740c29dae310d745dbc76", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -494,7 +506,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000002.12" + "code": "NC_000019.10" } ] } @@ -513,8 +525,8 @@ "coding": [ { "system": "http://loinc.org", - "code": "LA6706-1", - "display": "heterozygous" + "code": "LA6705-3", + "display": "homozygous" } ] } @@ -533,16 +545,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000002.12:47785959:A:G", - "display": "NC_000002.12:47785959:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "89296" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000107958.2" + "code": "NC_000019.10:11131630:G:C", + "display": "NC_000019.10:11131630:G:C" } ] } @@ -558,7 +562,7 @@ ] }, "valueQuantity": { - "value": 0.5, + "value": 1.0, "unit": "relative frequency of a particular allele in the specimen", "system": "http://unitsofmeasure.org", "code": "1" @@ -574,7 +578,7 @@ } ] }, - "valueString": "A" + "valueString": "G" }, { "code": { @@ -586,7 +590,7 @@ } ] }, - "valueString": "G" + "valueString": "C" }, { "code": { @@ -620,9 +624,25 @@ }, "valueRange": { "low": { - "value": 47785959 + "value": 11131630 } } + }, + { + "code": { + "coding": [ + { + "system": "http://loinc.org", + "code": "92821-8", + "display": "Population allele frequency" + } + ] + }, + "valueQuantity": { + "value": 0.818994, + "system": "http://unitsofmeasure.org", + "code": "1" + } } ] } @@ -631,7 +651,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6905932091e78c2c798", + "id": "dv-62fab69e5932091e78c3549c", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -661,7 +681,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-e28737e34fd843fbbe1717b56b96d1f8" + "reference": "Observation/dv-37304b7e844c41258d4a25a6dffada5b" } ], "component": [ @@ -699,8 +719,8 @@ "coding": [ { "system": "https://www.ncbi.nlm.nih.gov/medgen", - "code": "C4552100", - "display": "Lynch syndrome" + "code": "C0020445", + "display": "Familial hypercholesterolemia" } ] } @@ -716,9 +736,19 @@ ] }, "valueCodeableConcept": { - "text": "criteria provided, single submitter" + "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "252262" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001461329.1" + } ] } }, @@ -726,7 +756,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-e28737e34fd843fbbe1717b56b96d1f8", + "id": "dv-37304b7e844c41258d4a25a6dffada5b", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -799,7 +829,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000007.14" + "code": "NC_000019.10" } ] } @@ -838,16 +868,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000007.14:5997426:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA", - "display": "NC_000007.14:5997426:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "218461" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000257705.2" + "code": "NC_000019.10:11123264:A:G", + "display": "NC_000019.10:11123264:A:G" } ] } @@ -879,7 +901,7 @@ } ] }, - "valueString": "GA" + "valueString": "A" }, { "code": { @@ -925,7 +947,7 @@ }, "valueRange": { "low": { - "value": 5997425 + "value": 11123264 } } }, @@ -940,7 +962,7 @@ ] }, "valueQuantity": { - "value": 0.430816, + "value": 0.781146, "system": "http://unitsofmeasure.org", "code": "1" } @@ -952,7 +974,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6655932091e78c1145b", + "id": "dv-62fab6655932091e78c11c6a", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -982,7 +1004,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-0c3e9547181e4b789c13b04121a9ced8" + "reference": "Observation/dv-fcf9e127dc524dbab17c34123fd5aaf0" } ], "component": [ @@ -1040,6 +1062,16 @@ "text": "reviewed by expert panel" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "90227" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000106721.2" + } ] } }, @@ -1047,7 +1079,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-0c3e9547181e4b789c13b04121a9ced8", + "id": "dv-fcf9e127dc524dbab17c34123fd5aaf0", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -1159,16 +1191,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000003.12:37021467:G:T", - "display": "NC_000003.12:37021467:G:T" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "89611" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000106069.2" + "code": "NC_000003.12:37007141:A:G", + "display": "NC_000003.12:37007141:A:G" } ] } @@ -1200,7 +1224,7 @@ } ] }, - "valueString": "G" + "valueString": "A" }, { "code": { @@ -1212,7 +1236,7 @@ } ] }, - "valueString": "T" + "valueString": "G" }, { "code": { @@ -1246,7 +1270,7 @@ }, "valueRange": { "low": { - "value": 37021467 + "value": 37007141 } } } @@ -1257,7 +1281,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab7095932091e78c75e4d", + "id": "dv-62fab6395932091e78bf6bfe", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -1287,7 +1311,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-f2bfcff0b23a4c15a74aaeaef5faec4f" + "reference": "Observation/dv-210349083123421e9899d9f21af3ef71" } ], "component": [ @@ -1325,8 +1349,8 @@ "coding": [ { "system": "https://www.ncbi.nlm.nih.gov/medgen", - "code": "C0020445", - "display": "Familial hypercholesterolemia" + "code": "C4552100", + "display": "Lynch syndrome" } ] } @@ -1345,6 +1369,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "36564" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000052904.2" + } ] } }, @@ -1352,7 +1386,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-f2bfcff0b23a4c15a74aaeaef5faec4f", + "id": "dv-210349083123421e9899d9f21af3ef71", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -1444,8 +1478,8 @@ "coding": [ { "system": "http://loinc.org", - "code": "LA6705-3", - "display": "homozygous" + "code": "LA6706-1", + "display": "heterozygous" } ] } @@ -1464,16 +1498,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000002.12:21009930:T:C", - "display": "NC_000002.12:21009930:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "1168905" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV002053227.1" + "code": "NC_000002.12:47429661:G:A", + "display": "NC_000002.12:47429661:G:A" } ] } @@ -1489,7 +1515,7 @@ ] }, "valueQuantity": { - "value": 1.0, + "value": 0.5, "unit": "relative frequency of a particular allele in the specimen", "system": "http://unitsofmeasure.org", "code": "1" @@ -1505,7 +1531,7 @@ } ] }, - "valueString": "T" + "valueString": "G" }, { "code": { @@ -1517,7 +1543,7 @@ } ] }, - "valueString": "C" + "valueString": "A" }, { "code": { @@ -1551,25 +1577,9 @@ }, "valueRange": { "low": { - "value": 21009930 + "value": 47429661 } } - }, - { - "code": { - "coding": [ - { - "system": "http://loinc.org", - "code": "92821-8", - "display": "Population allele frequency" - } - ] - }, - "valueQuantity": { - "value": 0.995763, - "system": "http://unitsofmeasure.org", - "code": "1" - } } ] } @@ -1578,7 +1588,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6705932091e78c186e7", + "id": "dv-62fab63a5932091e78bf71dc", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -1608,7 +1618,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-c05bb5adae894ebc865a6808c7685992" + "reference": "Observation/dv-38f8d84905ff4a5e9547b1e339f3ce02" } ], "component": [ @@ -1646,8 +1656,8 @@ "coding": [ { "system": "https://www.ncbi.nlm.nih.gov/medgen", - "code": "C0677776", - "display": "Hereditary breast ovarian cancer syndrome" + "code": "C4552100", + "display": "Lynch syndrome" } ] } @@ -1663,9 +1673,19 @@ ] }, "valueCodeableConcept": { - "text": "criteria provided, single submitter" + "text": "reviewed by expert panel" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "36685" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000108294.2" + } ] } }, @@ -1673,7 +1693,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-c05bb5adae894ebc865a6808c7685992", + "id": "dv-38f8d84905ff4a5e9547b1e339f3ce02", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -1746,7 +1766,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000013.11" + "code": "NC_000007.14" } ] } @@ -1785,16 +1805,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000013.11:32355249:T:C", - "display": "NC_000013.11:32355249:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "133738" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001000149.4" + "code": "NC_000007.14:5987356:G:A", + "display": "NC_000007.14:5987356:G:A" } ] } @@ -1826,7 +1838,7 @@ } ] }, - "valueString": "T" + "valueString": "G" }, { "code": { @@ -1838,7 +1850,7 @@ } ] }, - "valueString": "C" + "valueString": "A" }, { "code": { @@ -1872,7 +1884,7 @@ }, "valueRange": { "low": { - "value": 32355249 + "value": 5987356 } } }, @@ -1887,7 +1899,7 @@ ] }, "valueQuantity": { - "value": 0.994876, + "value": 0.387786, "system": "http://unitsofmeasure.org", "code": "1" } @@ -1899,7 +1911,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6645932091e78c111bb", + "id": "dv-62fab68a5932091e78c28ebb", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -1929,7 +1941,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-37cd8d0c069d43cca4761374a718b6e8" + "reference": "Observation/dv-f2d0de4c461c487fa0d7b2b0a9034361" } ], "component": [ @@ -1967,8 +1979,8 @@ "coding": [ { "system": "https://www.ncbi.nlm.nih.gov/medgen", - "code": "C4552100", - "display": "Lynch syndrome" + "code": "C0020445", + "display": "Familial hypercholesterolemia" } ] } @@ -1984,9 +1996,19 @@ ] }, "valueCodeableConcept": { - "text": "reviewed by expert panel" + "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "200916" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001460277.1" + } ] } }, @@ -1994,7 +2016,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-37cd8d0c069d43cca4761374a718b6e8", + "id": "dv-f2d0de4c461c487fa0d7b2b0a9034361", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -2067,7 +2089,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000002.12" + "code": "NC_000019.10" } ] } @@ -2106,16 +2128,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000002.12:47798554:C:T", - "display": "NC_000002.12:47798554:C:T" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "89543" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000108232.2" + "code": "NC_000019.10:11113588:A:G", + "display": "NC_000019.10:11113588:A:G" } ] } @@ -2147,7 +2161,7 @@ } ] }, - "valueString": "C" + "valueString": "A" }, { "code": { @@ -2159,7 +2173,7 @@ } ] }, - "valueString": "T" + "valueString": "G" }, { "code": { @@ -2193,18 +2207,34 @@ }, "valueRange": { "low": { - "value": 47798554 + "value": 11113588 } } - } - ] - } - }, - { - "name": "implication", - "resource": { + }, + { + "code": { + "coding": [ + { + "system": "http://loinc.org", + "code": "92821-8", + "display": "Population allele frequency" + } + ] + }, + "valueQuantity": { + "value": 0.632026, + "system": "http://unitsofmeasure.org", + "code": "1" + } + } + ] + } + }, + { + "name": "implication", + "resource": { "resourceType": "Observation", - "id": "dv-62fab66e5932091e78c17717", + "id": "dv-62fab6395932091e78bf6afa", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -2234,7 +2264,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-1692d4f52d4944a391a1e1e57347d8eb" + "reference": "Observation/dv-437c728d910a46189036896c9a3fe97f" } ], "component": [ @@ -2272,8 +2302,8 @@ "coding": [ { "system": "https://www.ncbi.nlm.nih.gov/medgen", - "code": "C0020445", - "display": "Familial hypercholesterolemia" + "code": "C4552100", + "display": "Lynch syndrome" } ] } @@ -2289,9 +2319,19 @@ ] }, "valueCodeableConcept": { - "text": "criteria provided, single submitter" + "text": "reviewed by expert panel" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "36542" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000106295.2" + } ] } }, @@ -2299,7 +2339,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-1692d4f52d4944a391a1e1e57347d8eb", + "id": "dv-437c728d910a46189036896c9a3fe97f", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -2372,7 +2412,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000002.12" + "code": "NC_000003.12" } ] } @@ -2391,8 +2431,8 @@ "coding": [ { "system": "http://loinc.org", - "code": "LA6706-1", - "display": "heterozygous" + "code": "LA6705-3", + "display": "homozygous" } ] } @@ -2411,16 +2451,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000002.12:21041027:G:A", - "display": "NC_000002.12:21041027:G:A" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "128422" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000902527.1" + "code": "NC_000003.12:37042248:A:G", + "display": "NC_000003.12:37042248:A:G" } ] } @@ -2436,7 +2468,7 @@ ] }, "valueQuantity": { - "value": 0.5, + "value": 1.0, "unit": "relative frequency of a particular allele in the specimen", "system": "http://unitsofmeasure.org", "code": "1" @@ -2452,7 +2484,7 @@ } ] }, - "valueString": "G" + "valueString": "A" }, { "code": { @@ -2464,7 +2496,7 @@ } ] }, - "valueString": "A" + "valueString": "G" }, { "code": { @@ -2498,7 +2530,7 @@ }, "valueRange": { "low": { - "value": 21041027 + "value": 37042248 } } }, @@ -2513,7 +2545,7 @@ ] }, "valueQuantity": { - "value": 0.25802, + "value": 0.370828, "system": "http://unitsofmeasure.org", "code": "1" } @@ -2525,7 +2557,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6655932091e78c11631", + "id": "dv-62fab66e5932091e78c176c8", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -2555,7 +2587,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-e7a8dac6a6aa45c5b219fea9973e34ab" + "reference": "Observation/dv-d675ed9e0e514a478542b503a5250ab3" } ], "component": [ @@ -2593,8 +2625,8 @@ "coding": [ { "system": "https://www.ncbi.nlm.nih.gov/medgen", - "code": "C4552100", - "display": "Lynch syndrome" + "code": "C0020445", + "display": "Familial hypercholesterolemia" } ] } @@ -2610,9 +2642,19 @@ ] }, "valueCodeableConcept": { - "text": "reviewed by expert panel" + "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "128418" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000902521.1" + } ] } }, @@ -2620,7 +2662,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-e7a8dac6a6aa45c5b219fea9973e34ab", + "id": "dv-d675ed9e0e514a478542b503a5250ab3", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -2693,7 +2735,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000003.12" + "code": "NC_000002.12" } ] } @@ -2732,16 +2774,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000003.12:37037014:A:G", - "display": "NC_000003.12:37037014:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "89785" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000106257.2" + "code": "NC_000002.12:21002408:C:T", + "display": "NC_000002.12:21002408:C:T" } ] } @@ -2773,7 +2807,7 @@ } ] }, - "valueString": "A" + "valueString": "C" }, { "code": { @@ -2785,7 +2819,7 @@ } ] }, - "valueString": "G" + "valueString": "T" }, { "code": { @@ -2819,9 +2853,25 @@ }, "valueRange": { "low": { - "value": 37037014 + "value": 21002408 } } + }, + { + "code": { + "coding": [ + { + "system": "http://loinc.org", + "code": "92821-8", + "display": "Population allele frequency" + } + ] + }, + "valueQuantity": { + "value": 0.704884, + "system": "http://unitsofmeasure.org", + "code": "1" + } } ] } @@ -2830,7 +2880,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6655932091e78c119bb", + "id": "dv-62fab6655932091e78c1146d", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -2860,7 +2910,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-983532b4ef8b4928978bfaeba42af3db" + "reference": "Observation/dv-89eb7b13687a4828baa470fb82be0c0d" } ], "component": [ @@ -2918,6 +2968,16 @@ "text": "reviewed by expert panel" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "89615" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000106073.2" + } ] } }, @@ -2925,7 +2985,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-983532b4ef8b4928978bfaeba42af3db", + "id": "dv-89eb7b13687a4828baa470fb82be0c0d", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -3037,16 +3097,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000003.12:37048782:C:T", - "display": "NC_000003.12:37048782:C:T" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "89983" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000106463.2" + "code": "NC_000003.12:37020548:T:C", + "display": "NC_000003.12:37020548:T:C" } ] } @@ -3078,7 +3130,7 @@ } ] }, - "valueString": "C" + "valueString": "T" }, { "code": { @@ -3090,7 +3142,7 @@ } ] }, - "valueString": "T" + "valueString": "C" }, { "code": { @@ -3124,7 +3176,7 @@ }, "valueRange": { "low": { - "value": 37048782 + "value": 37020548 } } } @@ -3135,7 +3187,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6665932091e78c12386", + "id": "dv-62fab6655932091e78c11615", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -3165,7 +3217,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-7dcdefbf50b7446eb461e5d998247478" + "reference": "Observation/dv-e8e157f976b34a78ab1210328a2acd53" } ], "component": [ @@ -3223,6 +3275,16 @@ "text": "reviewed by expert panel" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "89773" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000106243.2" + } ] } }, @@ -3230,7 +3292,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-7dcdefbf50b7446eb461e5d998247478", + "id": "dv-e8e157f976b34a78ab1210328a2acd53", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -3303,7 +3365,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000002.12" + "code": "NC_000003.12" } ] } @@ -3322,8 +3384,8 @@ "coding": [ { "system": "http://loinc.org", - "code": "LA6706-1", - "display": "heterozygous" + "code": "LA6705-3", + "display": "homozygous" } ] } @@ -3342,16 +3404,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000002.12:47445429:G:A", - "display": "NC_000002.12:47445429:G:A" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "90599" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000107117.2" + "code": "NC_000003.12:37031135:A:C", + "display": "NC_000003.12:37031135:A:C" } ] } @@ -3367,7 +3421,7 @@ ] }, "valueQuantity": { - "value": 0.5, + "value": 1.0, "unit": "relative frequency of a particular allele in the specimen", "system": "http://unitsofmeasure.org", "code": "1" @@ -3383,7 +3437,7 @@ } ] }, - "valueString": "G" + "valueString": "A" }, { "code": { @@ -3395,7 +3449,7 @@ } ] }, - "valueString": "A" + "valueString": "C" }, { "code": { @@ -3429,7 +3483,7 @@ }, "valueRange": { "low": { - "value": 47445429 + "value": 37031135 } } } @@ -3440,7 +3494,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6645932091e78c10b92", + "id": "dv-62fab66f5932091e78c17cbd", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -3470,7 +3524,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-fc120b4aab9444d0b262a5d3036026b9" + "reference": "Observation/dv-c7c0803976fd4ab881f1588c713419ff" } ], "component": [ @@ -3508,8 +3562,8 @@ "coding": [ { "system": "https://www.ncbi.nlm.nih.gov/medgen", - "code": "C4552100", - "display": "Lynch syndrome" + "code": "C0677776", + "display": "Hereditary breast ovarian cancer syndrome" } ] } @@ -3525,9 +3579,19 @@ ] }, "valueCodeableConcept": { - "text": "reviewed by expert panel" + "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132779" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000635377.5" + } ] } }, @@ -3535,7 +3599,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-fc120b4aab9444d0b262a5d3036026b9", + "id": "dv-c7c0803976fd4ab881f1588c713419ff", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -3608,7 +3672,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000002.12" + "code": "NC_000013.11" } ] } @@ -3627,8 +3691,8 @@ "coding": [ { "system": "http://loinc.org", - "code": "LA6706-1", - "display": "heterozygous" + "code": "LA6705-3", + "display": "homozygous" } ] } @@ -3647,16 +3711,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000002.12:47785706:C:T", - "display": "NC_000002.12:47785706:C:T" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "89294" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000107969.2" + "code": "NC_000013.11:32338917:A:G", + "display": "NC_000013.11:32338917:A:G" } ] } @@ -3672,7 +3728,7 @@ ] }, "valueQuantity": { - "value": 0.5, + "value": 1.0, "unit": "relative frequency of a particular allele in the specimen", "system": "http://unitsofmeasure.org", "code": "1" @@ -3688,7 +3744,7 @@ } ] }, - "valueString": "C" + "valueString": "A" }, { "code": { @@ -3700,7 +3756,7 @@ } ] }, - "valueString": "T" + "valueString": "G" }, { "code": { @@ -3734,9 +3790,25 @@ }, "valueRange": { "low": { - "value": 47785706 + "value": 32338917 } } + }, + { + "code": { + "coding": [ + { + "system": "http://loinc.org", + "code": "92821-8", + "display": "Population allele frequency" + } + ] + }, + "valueQuantity": { + "value": 0.994359, + "system": "http://unitsofmeasure.org", + "code": "1" + } } ] } @@ -3745,7 +3817,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6645932091e78c10b9e", + "id": "dv-62fab6435932091e78bfc9ac", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -3775,7 +3847,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-525568db5bbb42e79c7b9c4b5d27fd28" + "reference": "Observation/dv-5071403516aa4a17871949bf246b8b5d" } ], "component": [ @@ -3833,6 +3905,16 @@ "text": "reviewed by expert panel" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "42471" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000108065.2" + } ] } }, @@ -3840,7 +3922,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-525568db5bbb42e79c7b9c4b5d27fd28", + "id": "dv-5071403516aa4a17871949bf246b8b5d", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -3932,8 +4014,8 @@ "coding": [ { "system": "http://loinc.org", - "code": "LA6706-1", - "display": "heterozygous" + "code": "LA6705-3", + "display": "homozygous" } ] } @@ -3952,16 +4034,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000002.12:47790890:A:G", - "display": "NC_000002.12:47790890:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "89301" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000107977.2" + "code": "NC_000002.12:47803698:A:T", + "display": "NC_000002.12:47803698:A:T" } ] } @@ -3977,7 +4051,7 @@ ] }, "valueQuantity": { - "value": 0.5, + "value": 1.0, "unit": "relative frequency of a particular allele in the specimen", "system": "http://unitsofmeasure.org", "code": "1" @@ -4005,7 +4079,7 @@ } ] }, - "valueString": "G" + "valueString": "T" }, { "code": { @@ -4039,7 +4113,7 @@ }, "valueRange": { "low": { - "value": 47790890 + "value": 47803698 } } }, @@ -4054,7 +4128,7 @@ ] }, "valueQuantity": { - "value": 0.0372618, + "value": 0.411752, "system": "http://unitsofmeasure.org", "code": "1" } @@ -4066,7 +4140,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab66e5932091e78c17715", + "id": "dv-62fab63a5932091e78bf6f9a", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -4096,7 +4170,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-1692d4f52d4944a391a1e1e57347d8eb" + "reference": "Observation/dv-70b3a31ae2224e559d8be65a11a9eddb" } ], "component": [ @@ -4134,8 +4208,8 @@ "coding": [ { "system": "https://www.ncbi.nlm.nih.gov/medgen", - "code": "C0020445", - "display": "Familial hypercholesterolemia" + "code": "C4552100", + "display": "Lynch syndrome" } ] } @@ -4151,17 +4225,27 @@ ] }, "valueCodeableConcept": { - "text": "criteria provided, single submitter" + "text": "reviewed by expert panel" } } - ] + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "36587" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000107992.2" + } + ] } }, { "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-1692d4f52d4944a391a1e1e57347d8eb", + "id": "dv-70b3a31ae2224e559d8be65a11a9eddb", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -4273,16 +4357,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000002.12:21041027:G:A", - "display": "NC_000002.12:21041027:G:A" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "128422" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV002524050.1" + "code": "NC_000002.12:47790941:A:G", + "display": "NC_000002.12:47790941:A:G" } ] } @@ -4314,7 +4390,7 @@ } ] }, - "valueString": "G" + "valueString": "A" }, { "code": { @@ -4326,7 +4402,7 @@ } ] }, - "valueString": "A" + "valueString": "G" }, { "code": { @@ -4360,7 +4436,7 @@ }, "valueRange": { "low": { - "value": 21041027 + "value": 47790941 } } }, @@ -4375,7 +4451,7 @@ ] }, "valueQuantity": { - "value": 0.25802, + "value": 0.134727, "system": "http://unitsofmeasure.org", "code": "1" } @@ -4387,7 +4463,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6655932091e78c11493", + "id": "dv-62fab6655932091e78c11a58", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -4417,7 +4493,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-324e0f6400104fc4846edb4fa8d66008" + "reference": "Observation/dv-396515d9058748f2a3ce8d4e5149620b" } ], "component": [ @@ -4475,6 +4551,16 @@ "text": "reviewed by expert panel" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "90024" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000106504.2" + } ] } }, @@ -4482,7 +4568,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-324e0f6400104fc4846edb4fa8d66008", + "id": "dv-396515d9058748f2a3ce8d4e5149620b", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -4594,16 +4680,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000003.12:37025558:A:G", - "display": "NC_000003.12:37025558:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "89625" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000106085.2" + "code": "NC_000003.12:36997279:C:T", + "display": "NC_000003.12:36997279:C:T" } ] } @@ -4635,7 +4713,7 @@ } ] }, - "valueString": "A" + "valueString": "C" }, { "code": { @@ -4647,7 +4725,7 @@ } ] }, - "valueString": "G" + "valueString": "T" }, { "code": { @@ -4681,7 +4759,7 @@ }, "valueRange": { "low": { - "value": 37025558 + "value": 36997279 } } } @@ -4692,7 +4770,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab66f5932091e78c17ccc", + "id": "dv-62fab6655932091e78c11355", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -4722,7 +4800,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-d47c74da1d8340e3976b600eedc794ac" + "reference": "Observation/dv-8154922662b44a9aa5260207fea8d5b6" } ], "component": [ @@ -4760,8 +4838,8 @@ "coding": [ { "system": "https://www.ncbi.nlm.nih.gov/medgen", - "code": "C0677776", - "display": "Hereditary breast ovarian cancer syndrome" + "code": "C4552100", + "display": "Lynch syndrome" } ] } @@ -4777,9 +4855,19 @@ ] }, "valueCodeableConcept": { - "text": "criteria provided, single submitter" + "text": "reviewed by expert panel" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "89544" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000108233.2" + } ] } }, @@ -4787,7 +4875,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-d47c74da1d8340e3976b600eedc794ac", + "id": "dv-8154922662b44a9aa5260207fea8d5b6", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -4860,7 +4948,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000013.11" + "code": "NC_000002.12" } ] } @@ -4899,16 +4987,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000013.11:32340867:G:C", - "display": "NC_000013.11:32340867:G:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132780" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV002025800.2" + "code": "NC_000002.12:47797736:C:T", + "display": "NC_000002.12:47797736:C:T" } ] } @@ -4940,7 +5020,7 @@ } ] }, - "valueString": "G" + "valueString": "C" }, { "code": { @@ -4952,7 +5032,7 @@ } ] }, - "valueString": "C" + "valueString": "T" }, { "code": { @@ -4986,25 +5066,9 @@ }, "valueRange": { "low": { - "value": 32340867 + "value": 47797736 } } - }, - { - "code": { - "coding": [ - { - "system": "http://loinc.org", - "code": "92821-8", - "display": "Population allele frequency" - } - ] - }, - "valueQuantity": { - "value": 0.994199, - "system": "http://unitsofmeasure.org", - "code": "1" - } } ] } @@ -5013,7 +5077,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6905932091e78c2c79a", + "id": "dv-62fab66f5932091e78c17ce1", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -5043,7 +5107,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-e28737e34fd843fbbe1717b56b96d1f8" + "reference": "Observation/dv-d47c74da1d8340e3976b600eedc794ac" } ], "component": [ @@ -5081,8 +5145,8 @@ "coding": [ { "system": "https://www.ncbi.nlm.nih.gov/medgen", - "code": "C4552100", - "display": "Lynch syndrome" + "code": "C0677776", + "display": "Hereditary breast ovarian cancer syndrome" } ] } @@ -5101,6 +5165,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132780" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000494339.1" + } ] } }, @@ -5108,7 +5182,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-e28737e34fd843fbbe1717b56b96d1f8", + "id": "dv-d47c74da1d8340e3976b600eedc794ac", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -5181,7 +5255,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000007.14" + "code": "NC_000013.11" } ] } @@ -5220,16 +5294,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000007.14:5997426:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA", - "display": "NC_000007.14:5997426:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "218461" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000257707.2" + "code": "NC_000013.11:32340867:G:C", + "display": "NC_000013.11:32340867:G:C" } ] } @@ -5261,7 +5327,7 @@ } ] }, - "valueString": "GA" + "valueString": "G" }, { "code": { @@ -5273,7 +5339,7 @@ } ] }, - "valueString": "G" + "valueString": "C" }, { "code": { @@ -5307,7 +5373,7 @@ }, "valueRange": { "low": { - "value": 5997425 + "value": 32340867 } } }, @@ -5322,7 +5388,7 @@ ] }, "valueQuantity": { - "value": 0.430816, + "value": 0.994199, "system": "http://unitsofmeasure.org", "code": "1" } @@ -5334,7 +5400,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6645932091e78c10b95", + "id": "dv-62fab66f5932091e78c17cd7", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -5364,7 +5430,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-49a4913593454c339fb981bd5144d9a6" + "reference": "Observation/dv-d47c74da1d8340e3976b600eedc794ac" } ], "component": [ @@ -5402,8 +5468,8 @@ "coding": [ { "system": "https://www.ncbi.nlm.nih.gov/medgen", - "code": "C4552100", - "display": "Lynch syndrome" + "code": "C0677776", + "display": "Hereditary breast ovarian cancer syndrome" } ] } @@ -5419,9 +5485,19 @@ ] }, "valueCodeableConcept": { - "text": "reviewed by expert panel" + "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132780" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000635514.5" + } ] } }, @@ -5429,7 +5505,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-49a4913593454c339fb981bd5144d9a6", + "id": "dv-d47c74da1d8340e3976b600eedc794ac", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -5502,7 +5578,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000002.12" + "code": "NC_000013.11" } ] } @@ -5521,8 +5597,8 @@ "coding": [ { "system": "http://loinc.org", - "code": "LA6706-1", - "display": "heterozygous" + "code": "LA6705-3", + "display": "homozygous" } ] } @@ -5541,16 +5617,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000002.12:47783514:C:G", - "display": "NC_000002.12:47783514:C:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "89295" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000107970.2" + "code": "NC_000013.11:32340867:G:C", + "display": "NC_000013.11:32340867:G:C" } ] } @@ -5566,7 +5634,7 @@ ] }, "valueQuantity": { - "value": 0.5, + "value": 1.0, "unit": "relative frequency of a particular allele in the specimen", "system": "http://unitsofmeasure.org", "code": "1" @@ -5582,7 +5650,7 @@ } ] }, - "valueString": "C" + "valueString": "G" }, { "code": { @@ -5594,7 +5662,7 @@ } ] }, - "valueString": "G" + "valueString": "C" }, { "code": { @@ -5628,7 +5696,7 @@ }, "valueRange": { "low": { - "value": 47783514 + "value": 32340867 } } }, @@ -5643,7 +5711,7 @@ ] }, "valueQuantity": { - "value": 0.13896, + "value": 0.994199, "system": "http://unitsofmeasure.org", "code": "1" } @@ -5655,7 +5723,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6995932091e78c31f8b", + "id": "dv-62fab63a5932091e78bf7251", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -5685,7 +5753,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-9bd8faa16b7f4b1d9a8d4c14b358b7db" + "reference": "Observation/dv-4435221b91444669b3f6237f6b6fa954" } ], "component": [ @@ -5723,8 +5791,8 @@ "coding": [ { "system": "https://www.ncbi.nlm.nih.gov/medgen", - "code": "C0020445", - "display": "Familial hypercholesterolemia" + "code": "C4552100", + "display": "Lynch syndrome" } ] } @@ -5740,9 +5808,19 @@ ] }, "valueCodeableConcept": { - "text": "criteria provided, single submitter" + "text": "reviewed by expert panel" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "36692" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000108377.2" + } ] } }, @@ -5750,7 +5828,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-9bd8faa16b7f4b1d9a8d4c14b358b7db", + "id": "dv-4435221b91444669b3f6237f6b6fa954", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -5823,7 +5901,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000001.11" + "code": "NC_000007.14" } ] } @@ -5842,8 +5920,8 @@ "coding": [ { "system": "http://loinc.org", - "code": "LA6706-1", - "display": "heterozygous" + "code": "LA6705-3", + "display": "homozygous" } ] } @@ -5862,16 +5940,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000001.11:55039879:CTGCTGCTGCTGCTGCTGCTGCT:CTGCTGCTGCTGCTGCTGCTGCTGCT", - "display": "NC_000001.11:55039879:CTGCTGCTGCTGCTGCTGCTGCT:CTGCTGCTGCTGCTGCTGCTGCTGCT" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "235043" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000912224.1" + "code": "NC_000007.14:5999090:T:C", + "display": "NC_000007.14:5999090:T:C" } ] } @@ -5887,7 +5957,7 @@ ] }, "valueQuantity": { - "value": 0.5, + "value": 1.0, "unit": "relative frequency of a particular allele in the specimen", "system": "http://unitsofmeasure.org", "code": "1" @@ -5903,7 +5973,7 @@ } ] }, - "valueString": "A" + "valueString": "T" }, { "code": { @@ -5915,7 +5985,7 @@ } ] }, - "valueString": "ACTG" + "valueString": "C" }, { "code": { @@ -5949,7 +6019,7 @@ }, "valueRange": { "low": { - "value": 55039878 + "value": 5999090 } } }, @@ -5964,7 +6034,7 @@ ] }, "valueQuantity": { - "value": 0.121721, + "value": 0.368213, "system": "http://unitsofmeasure.org", "code": "1" } @@ -5976,7 +6046,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab63a5932091e78bf7276", + "id": "dv-62fab6395932091e78bf6b0a", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -6006,7 +6076,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-5940367f4ed843f59a836f0cdce1dafe" + "reference": "Observation/dv-437c728d910a46189036896c9a3fe97f" } ], "component": [ @@ -6061,9 +6131,19 @@ ] }, "valueCodeableConcept": { - "text": "reviewed by expert panel" + "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "36542" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000052882.2" + } ] } }, @@ -6071,7 +6151,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-5940367f4ed843f59a836f0cdce1dafe", + "id": "dv-437c728d910a46189036896c9a3fe97f", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -6144,7 +6224,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000007.14" + "code": "NC_000003.12" } ] } @@ -6183,16 +6263,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000007.14:5997348:G:C", - "display": "NC_000007.14:5997348:G:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "36693" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000108381.2" + "code": "NC_000003.12:37042248:A:G", + "display": "NC_000003.12:37042248:A:G" } ] } @@ -6224,7 +6296,7 @@ } ] }, - "valueString": "G" + "valueString": "A" }, { "code": { @@ -6236,7 +6308,7 @@ } ] }, - "valueString": "C" + "valueString": "G" }, { "code": { @@ -6270,7 +6342,7 @@ }, "valueRange": { "low": { - "value": 5997348 + "value": 37042248 } } }, @@ -6285,7 +6357,7 @@ ] }, "valueQuantity": { - "value": 0.8018, + "value": 0.370828, "system": "http://unitsofmeasure.org", "code": "1" } @@ -6297,7 +6369,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab63a5932091e78bf6f6e", + "id": "dv-62fab6665932091e78c126e8", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -6327,7 +6399,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-db2c78d7a2d84f6a9a8927fb296cb567" + "reference": "Observation/dv-4bde3f4b60a843a88d84e9974aa86fa7" } ], "component": [ @@ -6382,9 +6454,19 @@ ] }, "valueCodeableConcept": { - "text": "criteria provided, single submitter" + "text": "reviewed by expert panel" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "90924" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000107454.2" + } ] } }, @@ -6392,7 +6474,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-db2c78d7a2d84f6a9a8927fb296cb567", + "id": "dv-4bde3f4b60a843a88d84e9974aa86fa7", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -6504,16 +6586,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000002.12:47783418:C:A", - "display": "NC_000002.12:47783418:C:A" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "36584" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000052928.2" + "code": "NC_000002.12:47476887:G:C", + "display": "NC_000002.12:47476887:G:C" } ] } @@ -6545,7 +6619,7 @@ } ] }, - "valueString": "C" + "valueString": "G" }, { "code": { @@ -6557,7 +6631,7 @@ } ] }, - "valueString": "A" + "valueString": "C" }, { "code": { @@ -6591,25 +6665,9 @@ }, "valueRange": { "low": { - "value": 47783418 + "value": 47476887 } } - }, - { - "code": { - "coding": [ - { - "system": "http://loinc.org", - "code": "92821-8", - "display": "Population allele frequency" - } - ] - }, - "valueQuantity": { - "value": 0.14442, - "system": "http://unitsofmeasure.org", - "code": "1" - } } ] } @@ -6618,7 +6676,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab69e5932091e78c34f8c", + "id": "dv-62fab63a5932091e78bf6fcc", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -6648,7 +6706,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-b5fde7b61b29434bb495e2bca5859063" + "reference": "Observation/dv-b8cc4e2fbe604134979c80e1aa8c4cee" } ], "component": [ @@ -6686,8 +6744,8 @@ "coding": [ { "system": "https://www.ncbi.nlm.nih.gov/medgen", - "code": "C0020445", - "display": "Familial hypercholesterolemia" + "code": "C4552100", + "display": "Lynch syndrome" } ] } @@ -6703,9 +6761,19 @@ ] }, "valueCodeableConcept": { - "text": "criteria provided, single submitter" + "text": "reviewed by expert panel" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "36594" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000108147.2" + } ] } }, @@ -6713,7 +6781,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-b5fde7b61b29434bb495e2bca5859063", + "id": "dv-b8cc4e2fbe604134979c80e1aa8c4cee", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -6786,7 +6854,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000019.10" + "code": "NC_000002.12" } ] } @@ -6805,8 +6873,8 @@ "coding": [ { "system": "http://loinc.org", - "code": "LA6706-1", - "display": "heterozygous" + "code": "LA6705-3", + "display": "homozygous" } ] } @@ -6825,16 +6893,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000019.10:11116123:C:T", - "display": "NC_000019.10:11116123:C:T" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "251936" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001727625.2" + "code": "NC_000002.12:47806411:C:G", + "display": "NC_000002.12:47806411:C:G" } ] } @@ -6850,7 +6910,7 @@ ] }, "valueQuantity": { - "value": 0.5, + "value": 1.0, "unit": "relative frequency of a particular allele in the specimen", "system": "http://unitsofmeasure.org", "code": "1" @@ -6878,7 +6938,7 @@ } ] }, - "valueString": "T" + "valueString": "G" }, { "code": { @@ -6912,7 +6972,7 @@ }, "valueRange": { "low": { - "value": 11116123 + "value": 47806411 } } }, @@ -6927,7 +6987,7 @@ ] }, "valueQuantity": { - "value": 0.0756166, + "value": 0.733985, "system": "http://unitsofmeasure.org", "code": "1" } @@ -6939,7 +6999,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab68a5932091e78c28ec6", + "id": "dv-62fab6665932091e78c11fa3", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -6969,7 +7029,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-f2d0de4c461c487fa0d7b2b0a9034361" + "reference": "Observation/dv-e1932783d03241559c7627fcde3fbec2" } ], "component": [ @@ -7007,8 +7067,8 @@ "coding": [ { "system": "https://www.ncbi.nlm.nih.gov/medgen", - "code": "C0020445", - "display": "Familial hypercholesterolemia" + "code": "C4552100", + "display": "Lynch syndrome" } ] } @@ -7024,9 +7084,19 @@ ] }, "valueCodeableConcept": { - "text": "criteria provided, single submitter" + "text": "reviewed by expert panel" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "90368" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000106876.2" + } ] } }, @@ -7034,7 +7104,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-f2d0de4c461c487fa0d7b2b0a9034361", + "id": "dv-e1932783d03241559c7627fcde3fbec2", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -7107,7 +7177,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000019.10" + "code": "NC_000003.12" } ] } @@ -7126,8 +7196,8 @@ "coding": [ { "system": "http://loinc.org", - "code": "LA6706-1", - "display": "heterozygous" + "code": "LA6705-3", + "display": "homozygous" } ] } @@ -7146,16 +7216,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000019.10:11113588:A:G", - "display": "NC_000019.10:11113588:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "200916" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001729839.2" + "code": "NC_000003.12:37016099:C:T", + "display": "NC_000003.12:37016099:C:T" } ] } @@ -7171,7 +7233,7 @@ ] }, "valueQuantity": { - "value": 0.5, + "value": 1.0, "unit": "relative frequency of a particular allele in the specimen", "system": "http://unitsofmeasure.org", "code": "1" @@ -7187,7 +7249,7 @@ } ] }, - "valueString": "A" + "valueString": "C" }, { "code": { @@ -7199,7 +7261,7 @@ } ] }, - "valueString": "G" + "valueString": "T" }, { "code": { @@ -7233,25 +7295,9 @@ }, "valueRange": { "low": { - "value": 11113588 + "value": 37016099 } } - }, - { - "code": { - "coding": [ - { - "system": "http://loinc.org", - "code": "92821-8", - "display": "Population allele frequency" - } - ] - }, - "valueQuantity": { - "value": 0.632026, - "system": "http://unitsofmeasure.org", - "code": "1" - } } ] } @@ -7260,7 +7306,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6645932091e78c10fb4", + "id": "dv-62fab66e5932091e78c176b0", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -7290,7 +7336,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-a71417cfb7164f2090e77f29a9ead21a" + "reference": "Observation/dv-719286980a454cc792902098a0122614" } ], "component": [ @@ -7328,8 +7374,8 @@ "coding": [ { "system": "https://www.ncbi.nlm.nih.gov/medgen", - "code": "C4552100", - "display": "Lynch syndrome" + "code": "C0020445", + "display": "Familial hypercholesterolemia" } ] } @@ -7345,9 +7391,19 @@ ] }, "valueCodeableConcept": { - "text": "reviewed by expert panel" + "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "128416" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000902556.1" + } ] } }, @@ -7355,7 +7411,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-a71417cfb7164f2090e77f29a9ead21a", + "id": "dv-719286980a454cc792902098a0122614", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -7467,16 +7523,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000002.12:47805735:CTATCTATCT:CTATCT", - "display": "NC_000002.12:47805735:CTATCTATCT:CTATCT" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "89429" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000108111.2" + "code": "NC_000002.12:21005954:C:T", + "display": "NC_000002.12:21005954:C:T" } ] } @@ -7508,7 +7556,7 @@ } ] }, - "valueString": "ACTAT" + "valueString": "C" }, { "code": { @@ -7520,7 +7568,7 @@ } ] }, - "valueString": "A" + "valueString": "T" }, { "code": { @@ -7554,7 +7602,7 @@ }, "valueRange": { "low": { - "value": 47805734 + "value": 21005954 } } }, @@ -7569,7 +7617,7 @@ ] }, "valueQuantity": { - "value": 0.6847, + "value": 0.0700284, "system": "http://unitsofmeasure.org", "code": "1" } @@ -7581,7 +7629,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6305932091e78bf264e", + "id": "dv-62fab6ab5932091e78c3cfb0", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -7611,7 +7659,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-5c81355782d446179e37701af154f50b" + "reference": "Observation/dv-dd6a5ae0dbc24360aea5a7c161101a68" } ], "component": [ @@ -7629,8 +7677,8 @@ "coding": [ { "system": "http://loinc.org", - "code": "LA6675-8", - "display": "Benign" + "code": "LA26333-7", + "display": "Uncertain significance" } ] } @@ -7649,8 +7697,8 @@ "coding": [ { "system": "https://www.ncbi.nlm.nih.gov/medgen", - "code": "C0020445", - "display": "Familial hypercholesterolemia" + "code": "C4552100", + "display": "Lynch syndrome" } ] } @@ -7669,6 +7717,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "336427" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000430916.2" + } ] } }, @@ -7676,7 +7734,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-5c81355782d446179e37701af154f50b", + "id": "dv-dd6a5ae0dbc24360aea5a7c161101a68", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -7749,7 +7807,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000001.11" + "code": "NC_000002.12" } ] } @@ -7788,16 +7846,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000001.11:55039973:G:T", - "display": "NC_000001.11:55039973:G:T" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "2878" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000690958.2" + "code": "NC_000002.12:47414420:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA", + "display": "NC_000002.12:47414420:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA" } ] } @@ -7813,7 +7863,7 @@ ] }, "valueQuantity": { - "value": 0.5, + "value": 0, "unit": "relative frequency of a particular allele in the specimen", "system": "http://unitsofmeasure.org", "code": "1" @@ -7829,7 +7879,7 @@ } ] }, - "valueString": "G" + "valueString": "TAA" }, { "code": { @@ -7875,25 +7925,9 @@ }, "valueRange": { "low": { - "value": 55039973 + "value": 47414419 } } - }, - { - "code": { - "coding": [ - { - "system": "http://loinc.org", - "code": "92821-8", - "display": "Population allele frequency" - } - ] - }, - "valueQuantity": { - "value": 0.0119305, - "system": "http://unitsofmeasure.org", - "code": "1" - } } ] } @@ -7902,7 +7936,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6645932091e78c10b9c", + "id": "dv-62fab63a5932091e78bf71d5", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -7932,7 +7966,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-6b10bc016d794b2d891a2da2b7b49512" + "reference": "Observation/dv-38f8d84905ff4a5e9547b1e339f3ce02" } ], "component": [ @@ -7987,9 +8021,19 @@ ] }, "valueCodeableConcept": { - "text": "reviewed by expert panel" + "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "36685" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000053031.2" + } ] } }, @@ -7997,7 +8041,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-6b10bc016d794b2d891a2da2b7b49512", + "id": "dv-38f8d84905ff4a5e9547b1e339f3ce02", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -8070,7 +8114,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000002.12" + "code": "NC_000007.14" } ] } @@ -8089,8 +8133,8 @@ "coding": [ { "system": "http://loinc.org", - "code": "LA6706-1", - "display": "heterozygous" + "code": "LA6705-3", + "display": "homozygous" } ] } @@ -8109,16 +8153,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000002.12:47789756:G:T", - "display": "NC_000002.12:47789756:G:T" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "89300" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000107976.2" + "code": "NC_000007.14:5987356:G:A", + "display": "NC_000007.14:5987356:G:A" } ] } @@ -8134,7 +8170,7 @@ ] }, "valueQuantity": { - "value": 0.5, + "value": 1.0, "unit": "relative frequency of a particular allele in the specimen", "system": "http://unitsofmeasure.org", "code": "1" @@ -8162,7 +8198,7 @@ } ] }, - "valueString": "T" + "valueString": "A" }, { "code": { @@ -8196,9 +8232,25 @@ }, "valueRange": { "low": { - "value": 47789756 + "value": 5987356 } } + }, + { + "code": { + "coding": [ + { + "system": "http://loinc.org", + "code": "92821-8", + "display": "Population allele frequency" + } + ] + }, + "valueQuantity": { + "value": 0.387786, + "system": "http://unitsofmeasure.org", + "code": "1" + } } ] } @@ -8207,7 +8259,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6655932091e78c11695", + "id": "dv-62fab66c5932091e78c15c00", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -8237,7 +8289,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-86d0233b22f3488197627b36c7594a73" + "reference": "Observation/dv-edfe8714ceaf4687910f600e46f6806e" } ], "component": [ @@ -8275,8 +8327,8 @@ "coding": [ { "system": "https://www.ncbi.nlm.nih.gov/medgen", - "code": "C4552100", - "display": "Lynch syndrome" + "code": "C0677776", + "display": "Hereditary breast ovarian cancer syndrome" } ] } @@ -8292,9 +8344,19 @@ ] }, "valueCodeableConcept": { - "text": "reviewed by expert panel" + "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "126022" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000494320.1" + } ] } }, @@ -8302,7 +8364,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-86d0233b22f3488197627b36c7594a73", + "id": "dv-edfe8714ceaf4687910f600e46f6806e", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -8375,7 +8437,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000003.12" + "code": "NC_000013.11" } ] } @@ -8414,17 +8476,9 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000003.12:37041382:T:C", - "display": "NC_000003.12:37041382:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "89830" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000106300.2" - } + "code": "NC_000013.11:32338161:T:C", + "display": "NC_000013.11:32338161:T:C" + } ] } }, @@ -8501,9 +8555,25 @@ }, "valueRange": { "low": { - "value": 37041382 + "value": 32338161 } } + }, + { + "code": { + "coding": [ + { + "system": "http://loinc.org", + "code": "92821-8", + "display": "Population allele frequency" + } + ] + }, + "valueQuantity": { + "value": 0.174603, + "system": "http://unitsofmeasure.org", + "code": "1" + } } ] } @@ -8512,7 +8582,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab66c5932091e78c15b7b", + "id": "dv-62fab6ab5932091e78c3cfb3", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -8542,7 +8612,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-99d2b1819c554636b70c366c3f79f914" + "reference": "Observation/dv-dd6a5ae0dbc24360aea5a7c161101a68" } ], "component": [ @@ -8560,8 +8630,8 @@ "coding": [ { "system": "http://loinc.org", - "code": "LA6675-8", - "display": "Benign" + "code": "LA26333-7", + "display": "Uncertain significance" } ] } @@ -8580,8 +8650,8 @@ "coding": [ { "system": "https://www.ncbi.nlm.nih.gov/medgen", - "code": "C0677776", - "display": "Hereditary breast ovarian cancer syndrome" + "code": "C4552100", + "display": "Lynch syndrome" } ] } @@ -8600,6 +8670,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "336427" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000430917.2" + } ] } }, @@ -8607,7 +8687,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-99d2b1819c554636b70c366c3f79f914", + "id": "dv-dd6a5ae0dbc24360aea5a7c161101a68", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -8680,7 +8760,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000013.11" + "code": "NC_000002.12" } ] } @@ -8719,16 +8799,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000013.11:32316588:T:G", - "display": "NC_000013.11:32316588:T:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "125991" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001719551.2" + "code": "NC_000002.12:47414420:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA", + "display": "NC_000002.12:47414420:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA" } ] } @@ -8744,7 +8816,7 @@ ] }, "valueQuantity": { - "value": 0.5, + "value": 0, "unit": "relative frequency of a particular allele in the specimen", "system": "http://unitsofmeasure.org", "code": "1" @@ -8760,7 +8832,7 @@ } ] }, - "valueString": "T" + "valueString": "TAA" }, { "code": { @@ -8772,7 +8844,7 @@ } ] }, - "valueString": "G" + "valueString": "T" }, { "code": { @@ -8806,7 +8878,7 @@ }, "valueRange": { "low": { - "value": 32316588 + "value": 47414419 } } } @@ -8817,7 +8889,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6665932091e78c1262d", + "id": "dv-62fab68e5932091e78c2b13d", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -8847,7 +8919,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-acb6861a2ae345cdae082be1563a4a66" + "reference": "Observation/dv-87f77277c4c84151bb54754435b23d8c" } ], "component": [ @@ -8885,8 +8957,8 @@ "coding": [ { "system": "https://www.ncbi.nlm.nih.gov/medgen", - "code": "C4552100", - "display": "Lynch syndrome" + "code": "C0677776", + "display": "Hereditary breast ovarian cancer syndrome" } ] } @@ -8902,9 +8974,19 @@ ] }, "valueCodeableConcept": { - "text": "reviewed by expert panel" + "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "209600" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001000937.4" + } ] } }, @@ -8912,7 +8994,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-acb6861a2ae345cdae082be1563a4a66", + "id": "dv-87f77277c4c84151bb54754435b23d8c", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -8985,7 +9067,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000002.12" + "code": "NC_000013.11" } ] } @@ -9004,8 +9086,8 @@ "coding": [ { "system": "http://loinc.org", - "code": "LA6706-1", - "display": "heterozygous" + "code": "LA6705-3", + "display": "homozygous" } ] } @@ -9024,16 +9106,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000002.12:47476101:A:G", - "display": "NC_000002.12:47476101:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "90846" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000107374.2" + "code": "NC_000013.11:32315654:A:G", + "display": "NC_000013.11:32315654:A:G" } ] } @@ -9049,7 +9123,7 @@ ] }, "valueQuantity": { - "value": 0.5, + "value": 1.0, "unit": "relative frequency of a particular allele in the specimen", "system": "http://unitsofmeasure.org", "code": "1" @@ -9111,7 +9185,7 @@ }, "valueRange": { "low": { - "value": 47476101 + "value": 32315654 } } } @@ -9122,7 +9196,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab69e5932091e78c3549d", + "id": "dv-62fab6675932091e78c13034", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -9152,7 +9226,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-37304b7e844c41258d4a25a6dffada5b" + "reference": "Observation/dv-d35a9e4b945a443abf237057131c03e5" } ], "component": [ @@ -9190,8 +9264,8 @@ "coding": [ { "system": "https://www.ncbi.nlm.nih.gov/medgen", - "code": "C0020445", - "display": "Familial hypercholesterolemia" + "code": "C4552100", + "display": "Lynch syndrome" } ] } @@ -9207,9 +9281,19 @@ ] }, "valueCodeableConcept": { - "text": "criteria provided, single submitter" + "text": "reviewed by expert panel" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "91356" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000108367.2" + } ] } }, @@ -9217,7 +9301,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-37304b7e844c41258d4a25a6dffada5b", + "id": "dv-d35a9e4b945a443abf237057131c03e5", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -9290,7 +9374,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000019.10" + "code": "NC_000007.14" } ] } @@ -9329,16 +9413,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000019.10:11123264:A:G", - "display": "NC_000019.10:11123264:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "252262" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001717062.2" + "code": "NC_000007.14:5999497:T:C", + "display": "NC_000007.14:5999497:T:C" } ] } @@ -9370,7 +9446,7 @@ } ] }, - "valueString": "A" + "valueString": "T" }, { "code": { @@ -9382,7 +9458,7 @@ } ] }, - "valueString": "G" + "valueString": "C" }, { "code": { @@ -9416,25 +9492,9 @@ }, "valueRange": { "low": { - "value": 11123264 + "value": 5999497 } } - }, - { - "code": { - "coding": [ - { - "system": "http://loinc.org", - "code": "92821-8", - "display": "Population allele frequency" - } - ] - }, - "valueQuantity": { - "value": 0.781146, - "system": "http://unitsofmeasure.org", - "code": "1" - } } ] } @@ -9443,7 +9503,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab66f5932091e78c17cb2", + "id": "dv-62fab63a5932091e78bf6fe4", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -9473,7 +9533,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-c7c0803976fd4ab881f1588c713419ff" + "reference": "Observation/dv-aab391f842a14a79865639fc25b95ff9" } ], "component": [ @@ -9511,8 +9571,8 @@ "coding": [ { "system": "https://www.ncbi.nlm.nih.gov/medgen", - "code": "C0677776", - "display": "Hereditary breast ovarian cancer syndrome" + "code": "C4552100", + "display": "Lynch syndrome" } ] } @@ -9528,9 +9588,19 @@ ] }, "valueCodeableConcept": { - "text": "criteria provided, single submitter" + "text": "reviewed by expert panel" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "36597" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000108224.2" + } ] } }, @@ -9538,7 +9608,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-c7c0803976fd4ab881f1588c713419ff", + "id": "dv-aab391f842a14a79865639fc25b95ff9", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -9611,7 +9681,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000013.11" + "code": "NC_000002.12" } ] } @@ -9630,8 +9700,8 @@ "coding": [ { "system": "http://loinc.org", - "code": "LA6705-3", - "display": "homozygous" + "code": "LA6706-1", + "display": "heterozygous" } ] } @@ -9650,16 +9720,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000013.11:32338917:A:G", - "display": "NC_000013.11:32338917:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132779" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV002026104.2" + "code": "NC_000002.12:47795975:T:C", + "display": "NC_000002.12:47795975:T:C" } ] } @@ -9675,7 +9737,7 @@ ] }, "valueQuantity": { - "value": 1.0, + "value": 0.5, "unit": "relative frequency of a particular allele in the specimen", "system": "http://unitsofmeasure.org", "code": "1" @@ -9691,7 +9753,7 @@ } ] }, - "valueString": "A" + "valueString": "T" }, { "code": { @@ -9703,7 +9765,7 @@ } ] }, - "valueString": "G" + "valueString": "C" }, { "code": { @@ -9737,7 +9799,7 @@ }, "valueRange": { "low": { - "value": 32338917 + "value": 47795975 } } }, @@ -9752,7 +9814,7 @@ ] }, "valueQuantity": { - "value": 0.994359, + "value": 0.212977, "system": "http://unitsofmeasure.org", "code": "1" } @@ -9764,7 +9826,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6665932091e78c11f9b", + "id": "dv-62fab6645932091e78c10f67", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -9794,7 +9856,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-994f4ecf114a4bbb92bdb40776afc9b3" + "reference": "Observation/dv-db238eae873046a1bd607a546dc9381e" } ], "component": [ @@ -9852,6 +9914,16 @@ "text": "reviewed by expert panel" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "89410" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000108090.2" + } ] } }, @@ -9859,7 +9931,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-994f4ecf114a4bbb92bdb40776afc9b3", + "id": "dv-db238eae873046a1bd607a546dc9381e", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -9932,7 +10004,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000003.12" + "code": "NC_000002.12" } ] } @@ -9951,8 +10023,8 @@ "coding": [ { "system": "http://loinc.org", - "code": "LA6705-3", - "display": "homozygous" + "code": "LA6706-1", + "display": "heterozygous" } ] } @@ -9971,16 +10043,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000003.12:37015498:C:A", - "display": "NC_000003.12:37015498:C:A" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "90366" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000106871.2" + "code": "NC_000002.12:47805172:G:A", + "display": "NC_000002.12:47805172:G:A" } ] } @@ -9996,7 +10060,7 @@ ] }, "valueQuantity": { - "value": 1.0, + "value": 0.5, "unit": "relative frequency of a particular allele in the specimen", "system": "http://unitsofmeasure.org", "code": "1" @@ -10012,7 +10076,7 @@ } ] }, - "valueString": "C" + "valueString": "G" }, { "code": { @@ -10058,7 +10122,7 @@ }, "valueRange": { "low": { - "value": 37015498 + "value": 47805172 } } } @@ -10069,7 +10133,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6645932091e78c10df7", + "id": "dv-62fab66f5932091e78c17cc2", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -10099,7 +10163,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-2439d4f778564bdd88dc95b2864fac18" + "reference": "Observation/dv-c7c0803976fd4ab881f1588c713419ff" } ], "component": [ @@ -10137,8 +10201,8 @@ "coding": [ { "system": "https://www.ncbi.nlm.nih.gov/medgen", - "code": "C4552100", - "display": "Lynch syndrome" + "code": "C0677776", + "display": "Hereditary breast ovarian cancer syndrome" } ] } @@ -10154,9 +10218,19 @@ ] }, "valueCodeableConcept": { - "text": "reviewed by expert panel" + "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132779" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000494326.1" + } ] } }, @@ -10164,7 +10238,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-2439d4f778564bdd88dc95b2864fac18", + "id": "dv-c7c0803976fd4ab881f1588c713419ff", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -10237,7 +10311,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000002.12" + "code": "NC_000013.11" } ] } @@ -10276,16 +10350,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000002.12:47803318:G:C", - "display": "NC_000002.12:47803318:G:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "89345" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000108022.2" + "code": "NC_000013.11:32338917:A:G", + "display": "NC_000013.11:32338917:A:G" } ] } @@ -10317,7 +10383,7 @@ } ] }, - "valueString": "G" + "valueString": "A" }, { "code": { @@ -10329,7 +10395,7 @@ } ] }, - "valueString": "C" + "valueString": "G" }, { "code": { @@ -10363,9 +10429,25 @@ }, "valueRange": { "low": { - "value": 47803318 + "value": 32338917 } } + }, + { + "code": { + "coding": [ + { + "system": "http://loinc.org", + "code": "92821-8", + "display": "Population allele frequency" + } + ] + }, + "valueQuantity": { + "value": 0.994359, + "system": "http://unitsofmeasure.org", + "code": "1" + } } ] } @@ -10374,7 +10456,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6665932091e78c12377", + "id": "dv-62fab6645932091e78c11177", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -10404,7 +10486,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-4e13aba739b94934be7f63b77b87abf0" + "reference": "Observation/dv-1aa0fdfa74344f23b55e811414e4dcdf" } ], "component": [ @@ -10462,14 +10544,24 @@ "text": "reviewed by expert panel" } } - ] + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "89521" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000108207.2" + } + ] } }, { "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-4e13aba739b94934be7f63b77b87abf0", + "id": "dv-1aa0fdfa74344f23b55e811414e4dcdf", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -10581,16 +10673,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000002.12:47444602:A:C", - "display": "NC_000002.12:47444602:A:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "90609" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000107126.2" + "code": "NC_000002.12:47792345:T:C", + "display": "NC_000002.12:47792345:T:C" } ] } @@ -10622,7 +10706,7 @@ } ] }, - "valueString": "A" + "valueString": "T" }, { "code": { @@ -10668,7 +10752,7 @@ }, "valueRange": { "low": { - "value": 47444602 + "value": 47792345 } } } @@ -10679,7 +10763,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab66c5932091e78c15c01", + "id": "dv-62fab6645932091e78c11178", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -10709,7 +10793,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-edfe8714ceaf4687910f600e46f6806e" + "reference": "Observation/dv-234ee4ca3da04ab39f5ebfed027792dd" } ], "component": [ @@ -10747,8 +10831,8 @@ "coding": [ { "system": "https://www.ncbi.nlm.nih.gov/medgen", - "code": "C0677776", - "display": "Hereditary breast ovarian cancer syndrome" + "code": "C4552100", + "display": "Lynch syndrome" } ] } @@ -10764,9 +10848,19 @@ ] }, "valueCodeableConcept": { - "text": "criteria provided, single submitter" + "text": "reviewed by expert panel" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "89525" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000108211.2" + } ] } }, @@ -10774,7 +10868,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-edfe8714ceaf4687910f600e46f6806e", + "id": "dv-234ee4ca3da04ab39f5ebfed027792dd", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -10847,7 +10941,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000013.11" + "code": "NC_000002.12" } ] } @@ -10866,8 +10960,8 @@ "coding": [ { "system": "http://loinc.org", - "code": "LA6705-3", - "display": "homozygous" + "code": "LA6706-1", + "display": "heterozygous" } ] } @@ -10886,16 +10980,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000013.11:32338161:T:C", - "display": "NC_000013.11:32338161:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "126022" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV002026093.2" + "code": "NC_000002.12:47791516:T:C", + "display": "NC_000002.12:47791516:T:C" } ] } @@ -10911,7 +10997,7 @@ ] }, "valueQuantity": { - "value": 1.0, + "value": 0.5, "unit": "relative frequency of a particular allele in the specimen", "system": "http://unitsofmeasure.org", "code": "1" @@ -10973,25 +11059,9 @@ }, "valueRange": { "low": { - "value": 32338161 + "value": 47791516 } } - }, - { - "code": { - "coding": [ - { - "system": "http://loinc.org", - "code": "92821-8", - "display": "Population allele frequency" - } - ] - }, - "valueQuantity": { - "value": 0.174603, - "system": "http://unitsofmeasure.org", - "code": "1" - } } ] } @@ -11000,7 +11070,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6705932091e78c186e3", + "id": "dv-62fab6645932091e78c10fbb", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -11030,7 +11100,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-c05bb5adae894ebc865a6808c7685992" + "reference": "Observation/dv-32bc0d97fc48469c8f3bf615dc186530" } ], "component": [ @@ -11068,8 +11138,8 @@ "coding": [ { "system": "https://www.ncbi.nlm.nih.gov/medgen", - "code": "C0677776", - "display": "Hereditary breast ovarian cancer syndrome" + "code": "C4552100", + "display": "Lynch syndrome" } ] } @@ -11085,9 +11155,19 @@ ] }, "valueCodeableConcept": { - "text": "criteria provided, single submitter" + "text": "reviewed by expert panel" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "89432" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000108113.2" + } ] } }, @@ -11095,7 +11175,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-c05bb5adae894ebc865a6808c7685992", + "id": "dv-32bc0d97fc48469c8f3bf615dc186530", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -11168,7 +11248,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000013.11" + "code": "NC_000002.12" } ] } @@ -11207,16 +11287,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000013.11:32355249:T:C", - "display": "NC_000013.11:32355249:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "133738" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV002025816.2" + "code": "NC_000002.12:47805797:T:C", + "display": "NC_000002.12:47805797:T:C" } ] } @@ -11294,25 +11366,9 @@ }, "valueRange": { "low": { - "value": 32355249 + "value": 47805797 } } - }, - { - "code": { - "coding": [ - { - "system": "http://loinc.org", - "code": "92821-8", - "display": "Population allele frequency" - } - ] - }, - "valueQuantity": { - "value": 0.994876, - "system": "http://unitsofmeasure.org", - "code": "1" - } } ] } @@ -11321,7 +11377,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6655932091e78c11bb9", + "id": "dv-62fab63a5932091e78bf6f6f", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -11351,7 +11407,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-aa7bc4cb064c41b8939860b917dde5af" + "reference": "Observation/dv-db2c78d7a2d84f6a9a8927fb296cb567" } ], "component": [ @@ -11409,6 +11465,16 @@ "text": "reviewed by expert panel" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "36584" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000107898.2" + } ] } }, @@ -11416,7 +11482,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-aa7bc4cb064c41b8939860b917dde5af", + "id": "dv-db2c78d7a2d84f6a9a8927fb296cb567", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -11489,7 +11555,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000003.12" + "code": "NC_000002.12" } ] } @@ -11508,8 +11574,8 @@ "coding": [ { "system": "http://loinc.org", - "code": "LA6705-3", - "display": "homozygous" + "code": "LA6706-1", + "display": "heterozygous" } ] } @@ -11528,16 +11594,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000003.12:37001468:A:C", - "display": "NC_000003.12:37001468:A:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "90146" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000106634.2" + "code": "NC_000002.12:47783418:C:A", + "display": "NC_000002.12:47783418:C:A" } ] } @@ -11553,7 +11611,7 @@ ] }, "valueQuantity": { - "value": 1.0, + "value": 0.5, "unit": "relative frequency of a particular allele in the specimen", "system": "http://unitsofmeasure.org", "code": "1" @@ -11569,7 +11627,7 @@ } ] }, - "valueString": "A" + "valueString": "C" }, { "code": { @@ -11581,7 +11639,7 @@ } ] }, - "valueString": "C" + "valueString": "A" }, { "code": { @@ -11615,9 +11673,25 @@ }, "valueRange": { "low": { - "value": 37001468 + "value": 47783418 } } + }, + { + "code": { + "coding": [ + { + "system": "http://loinc.org", + "code": "92821-8", + "display": "Population allele frequency" + } + ] + }, + "valueQuantity": { + "value": 0.14442, + "system": "http://unitsofmeasure.org", + "code": "1" + } } ] } @@ -11626,7 +11700,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6665932091e78c1245b", + "id": "dv-62fab6645932091e78c10f6f", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -11656,7 +11730,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-ddbfcfdb118b4385a9dad7e38d9b6da5" + "reference": "Observation/dv-3b3666df092d4e808a0d597a56a5022b" } ], "component": [ @@ -11714,6 +11788,16 @@ "text": "reviewed by expert panel" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "89411" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000108091.2" + } ] } }, @@ -11721,7 +11805,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-ddbfcfdb118b4385a9dad7e38d9b6da5", + "id": "dv-3b3666df092d4e808a0d597a56a5022b", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -11833,16 +11917,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000002.12:47465141:C:T", - "display": "NC_000002.12:47465141:C:T" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "90687" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000107200.2" + "code": "NC_000002.12:47805186:T:C", + "display": "NC_000002.12:47805186:T:C" } ] } @@ -11874,7 +11950,7 @@ } ] }, - "valueString": "C" + "valueString": "T" }, { "code": { @@ -11886,7 +11962,7 @@ } ] }, - "valueString": "T" + "valueString": "C" }, { "code": { @@ -11920,7 +11996,7 @@ }, "valueRange": { "low": { - "value": 47465141 + "value": 47805186 } } } @@ -11931,7 +12007,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab66c5932091e78c15bf3", + "id": "dv-62fab63a5932091e78bf6fd4", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -11961,7 +12037,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-edfe8714ceaf4687910f600e46f6806e" + "reference": "Observation/dv-b8cc4e2fbe604134979c80e1aa8c4cee" } ], "component": [ @@ -11999,8 +12075,8 @@ "coding": [ { "system": "https://www.ncbi.nlm.nih.gov/medgen", - "code": "C0677776", - "display": "Hereditary breast ovarian cancer syndrome" + "code": "C4552100", + "display": "Lynch syndrome" } ] } @@ -12019,6 +12095,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "36594" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000052939.2" + } ] } }, @@ -12026,7 +12112,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-edfe8714ceaf4687910f600e46f6806e", + "id": "dv-b8cc4e2fbe604134979c80e1aa8c4cee", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -12099,7 +12185,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000013.11" + "code": "NC_000002.12" } ] } @@ -12138,16 +12224,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000013.11:32338161:T:C", - "display": "NC_000013.11:32338161:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "126022" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001000460.4" + "code": "NC_000002.12:47806411:C:G", + "display": "NC_000002.12:47806411:C:G" } ] } @@ -12179,7 +12257,7 @@ } ] }, - "valueString": "T" + "valueString": "C" }, { "code": { @@ -12191,7 +12269,7 @@ } ] }, - "valueString": "C" + "valueString": "G" }, { "code": { @@ -12225,7 +12303,7 @@ }, "valueRange": { "low": { - "value": 32338161 + "value": 47806411 } } }, @@ -12240,7 +12318,7 @@ ] }, "valueQuantity": { - "value": 0.174603, + "value": 0.733985, "system": "http://unitsofmeasure.org", "code": "1" } @@ -12252,7 +12330,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6725932091e78c1a029", + "id": "dv-62fab6395932091e78bf6bfd", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -12282,7 +12360,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-57863b6706444b2e9fabc5d5808df40a" + "reference": "Observation/dv-210349083123421e9899d9f21af3ef71" } ], "component": [ @@ -12320,8 +12398,8 @@ "coding": [ { "system": "https://www.ncbi.nlm.nih.gov/medgen", - "code": "C0677776", - "display": "Hereditary breast ovarian cancer syndrome" + "code": "C4552100", + "display": "Lynch syndrome" } ] } @@ -12337,9 +12415,19 @@ ] }, "valueCodeableConcept": { - "text": "criteria provided, single submitter" + "text": "reviewed by expert panel" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "36564" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000107047.2" + } ] } }, @@ -12347,7 +12435,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-57863b6706444b2e9fabc5d5808df40a", + "id": "dv-210349083123421e9899d9f21af3ef71", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -12420,7 +12508,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000017.11" + "code": "NC_000002.12" } ] } @@ -12459,16 +12547,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000017.11:7676482:G:C", - "display": "NC_000017.11:7676482:G:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "137691" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV002505088.1" + "code": "NC_000002.12:47429661:G:A", + "display": "NC_000002.12:47429661:G:A" } ] } @@ -12512,7 +12592,7 @@ } ] }, - "valueString": "C" + "valueString": "A" }, { "code": { @@ -12546,25 +12626,9 @@ }, "valueRange": { "low": { - "value": 7676482 + "value": 47429661 } } - }, - { - "code": { - "coding": [ - { - "system": "http://loinc.org", - "code": "92821-8", - "display": "Population allele frequency" - } - ] - }, - "valueQuantity": { - "value": 0.673405, - "system": "http://unitsofmeasure.org", - "code": "1" - } } ] } @@ -12573,7 +12637,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6665932091e78c1220d", + "id": "dv-62fab63a5932091e78bf725d", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -12603,7 +12667,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-e33b1b39b9074c3ab87f3695f3beb087" + "reference": "Observation/dv-5940367f4ed843f59a836f0cdce1dafe" } ], "component": [ @@ -12658,9 +12722,19 @@ ] }, "valueCodeableConcept": { - "text": "reviewed by expert panel" + "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "36693" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000053039.2" + } ] } }, @@ -12668,7 +12742,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-e33b1b39b9074c3ab87f3695f3beb087", + "id": "dv-5940367f4ed843f59a836f0cdce1dafe", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -12741,7 +12815,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000002.12" + "code": "NC_000007.14" } ] } @@ -12760,8 +12834,8 @@ "coding": [ { "system": "http://loinc.org", - "code": "LA6706-1", - "display": "heterozygous" + "code": "LA6705-3", + "display": "homozygous" } ] } @@ -12780,16 +12854,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000002.12:47439698:T:C", - "display": "NC_000002.12:47439698:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "90607" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000107124.2" + "code": "NC_000007.14:5997348:G:C", + "display": "NC_000007.14:5997348:G:C" } ] } @@ -12805,7 +12871,7 @@ ] }, "valueQuantity": { - "value": 0.5, + "value": 1.0, "unit": "relative frequency of a particular allele in the specimen", "system": "http://unitsofmeasure.org", "code": "1" @@ -12821,7 +12887,7 @@ } ] }, - "valueString": "T" + "valueString": "G" }, { "code": { @@ -12867,9 +12933,25 @@ }, "valueRange": { "low": { - "value": 47439698 + "value": 5997348 } } + }, + { + "code": { + "coding": [ + { + "system": "http://loinc.org", + "code": "92821-8", + "display": "Population allele frequency" + } + ] + }, + "valueQuantity": { + "value": 0.8018, + "system": "http://unitsofmeasure.org", + "code": "1" + } } ] } @@ -12878,7 +12960,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6335932091e78bf3e30", + "id": "dv-62fab63a5932091e78bf7252", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -12908,7 +12990,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-3bbaa1e62567438db8586df47ee86d51" + "reference": "Observation/dv-4435221b91444669b3f6237f6b6fa954" } ], "component": [ @@ -12946,8 +13028,8 @@ "coding": [ { "system": "https://www.ncbi.nlm.nih.gov/medgen", - "code": "C0677776", - "display": "Hereditary breast ovarian cancer syndrome" + "code": "C4552100", + "display": "Lynch syndrome" } ] } @@ -12966,6 +13048,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "36692" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000053038.2" + } ] } }, @@ -12973,7 +13065,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-3bbaa1e62567438db8586df47ee86d51", + "id": "dv-4435221b91444669b3f6237f6b6fa954", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -13046,7 +13138,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000017.11" + "code": "NC_000007.14" } ] } @@ -13065,8 +13157,8 @@ "coding": [ { "system": "http://loinc.org", - "code": "LA6706-1", - "display": "heterozygous" + "code": "LA6705-3", + "display": "homozygous" } ] } @@ -13085,16 +13177,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000017.11:7676153:G:C", - "display": "NC_000017.11:7676153:G:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "12351" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV002505076.1" + "code": "NC_000007.14:5999090:T:C", + "display": "NC_000007.14:5999090:T:C" } ] } @@ -13110,7 +13194,7 @@ ] }, "valueQuantity": { - "value": 0.5, + "value": 1.0, "unit": "relative frequency of a particular allele in the specimen", "system": "http://unitsofmeasure.org", "code": "1" @@ -13126,7 +13210,7 @@ } ] }, - "valueString": "G" + "valueString": "T" }, { "code": { @@ -13172,7 +13256,7 @@ }, "valueRange": { "low": { - "value": 7676153 + "value": 5999090 } } }, @@ -13187,7 +13271,7 @@ ] }, "valueQuantity": { - "value": 0.668165, + "value": 0.368213, "system": "http://unitsofmeasure.org", "code": "1" } @@ -13287,6 +13371,16 @@ "text": "reviewed by expert panel" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "89526" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000108213.2" + } ] } }, @@ -13408,14 +13502,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000002.12:47791174:T:A", "display": "NC_000002.12:47791174:T:A" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "89526" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000108213.2" } ] } @@ -13504,7 +13590,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab63a5932091e78bf6f98", + "id": "dv-62fab6725932091e78c1a029", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -13534,7 +13620,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-70b3a31ae2224e559d8be65a11a9eddb" + "reference": "Observation/dv-57863b6706444b2e9fabc5d5808df40a" } ], "component": [ @@ -13572,8 +13658,8 @@ "coding": [ { "system": "https://www.ncbi.nlm.nih.gov/medgen", - "code": "C4552100", - "display": "Lynch syndrome" + "code": "C0677776", + "display": "Hereditary breast ovarian cancer syndrome" } ] } @@ -13592,6 +13678,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "137691" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV002505088.1" + } ] } }, @@ -13599,7 +13695,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-70b3a31ae2224e559d8be65a11a9eddb", + "id": "dv-57863b6706444b2e9fabc5d5808df40a", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -13672,7 +13768,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000002.12" + "code": "NC_000017.11" } ] } @@ -13711,16 +13807,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000002.12:47790941:A:G", - "display": "NC_000002.12:47790941:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "36587" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000052932.2" + "code": "NC_000017.11:7676482:G:C", + "display": "NC_000017.11:7676482:G:C" } ] } @@ -13752,7 +13840,7 @@ } ] }, - "valueString": "A" + "valueString": "G" }, { "code": { @@ -13764,7 +13852,7 @@ } ] }, - "valueString": "G" + "valueString": "C" }, { "code": { @@ -13798,7 +13886,7 @@ }, "valueRange": { "low": { - "value": 47790941 + "value": 7676482 } } }, @@ -13813,7 +13901,7 @@ ] }, "valueQuantity": { - "value": 0.134727, + "value": 0.673405, "system": "http://unitsofmeasure.org", "code": "1" } @@ -13825,7 +13913,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab63a5932091e78bf725d", + "id": "dv-62fab66c5932091e78c15bf3", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -13855,7 +13943,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-5940367f4ed843f59a836f0cdce1dafe" + "reference": "Observation/dv-edfe8714ceaf4687910f600e46f6806e" } ], "component": [ @@ -13893,8 +13981,8 @@ "coding": [ { "system": "https://www.ncbi.nlm.nih.gov/medgen", - "code": "C4552100", - "display": "Lynch syndrome" + "code": "C0677776", + "display": "Hereditary breast ovarian cancer syndrome" } ] } @@ -13913,6 +14001,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "126022" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001000460.4" + } ] } }, @@ -13920,7 +14018,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-5940367f4ed843f59a836f0cdce1dafe", + "id": "dv-edfe8714ceaf4687910f600e46f6806e", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -13993,7 +14091,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000007.14" + "code": "NC_000013.11" } ] } @@ -14032,16 +14130,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000007.14:5997348:G:C", - "display": "NC_000007.14:5997348:G:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "36693" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000053039.2" + "code": "NC_000013.11:32338161:T:C", + "display": "NC_000013.11:32338161:T:C" } ] } @@ -14073,7 +14163,7 @@ } ] }, - "valueString": "G" + "valueString": "T" }, { "code": { @@ -14119,7 +14209,7 @@ }, "valueRange": { "low": { - "value": 5997348 + "value": 32338161 } } }, @@ -14134,7 +14224,7 @@ ] }, "valueQuantity": { - "value": 0.8018, + "value": 0.174603, "system": "http://unitsofmeasure.org", "code": "1" } @@ -14146,7 +14236,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab63a5932091e78bf7252", + "id": "dv-62fab6665932091e78c1220d", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -14176,7 +14266,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-4435221b91444669b3f6237f6b6fa954" + "reference": "Observation/dv-e33b1b39b9074c3ab87f3695f3beb087" } ], "component": [ @@ -14231,9 +14321,19 @@ ] }, "valueCodeableConcept": { - "text": "criteria provided, single submitter" + "text": "reviewed by expert panel" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "90607" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000107124.2" + } ] } }, @@ -14241,7 +14341,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-4435221b91444669b3f6237f6b6fa954", + "id": "dv-e33b1b39b9074c3ab87f3695f3beb087", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -14314,7 +14414,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000007.14" + "code": "NC_000002.12" } ] } @@ -14333,8 +14433,8 @@ "coding": [ { "system": "http://loinc.org", - "code": "LA6705-3", - "display": "homozygous" + "code": "LA6706-1", + "display": "heterozygous" } ] } @@ -14353,16 +14453,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000007.14:5999090:T:C", - "display": "NC_000007.14:5999090:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "36692" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000053038.2" + "code": "NC_000002.12:47439698:T:C", + "display": "NC_000002.12:47439698:T:C" } ] } @@ -14378,7 +14470,7 @@ ] }, "valueQuantity": { - "value": 1.0, + "value": 0.5, "unit": "relative frequency of a particular allele in the specimen", "system": "http://unitsofmeasure.org", "code": "1" @@ -14440,25 +14532,9 @@ }, "valueRange": { "low": { - "value": 5999090 + "value": 47439698 } } - }, - { - "code": { - "coding": [ - { - "system": "http://loinc.org", - "code": "92821-8", - "display": "Population allele frequency" - } - ] - }, - "valueQuantity": { - "value": 0.368213, - "system": "http://unitsofmeasure.org", - "code": "1" - } } ] } @@ -14467,7 +14543,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab63a5932091e78bf6fd4", + "id": "dv-62fab6335932091e78bf3e30", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -14497,7 +14573,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-b8cc4e2fbe604134979c80e1aa8c4cee" + "reference": "Observation/dv-3bbaa1e62567438db8586df47ee86d51" } ], "component": [ @@ -14535,8 +14611,8 @@ "coding": [ { "system": "https://www.ncbi.nlm.nih.gov/medgen", - "code": "C4552100", - "display": "Lynch syndrome" + "code": "C0677776", + "display": "Hereditary breast ovarian cancer syndrome" } ] } @@ -14555,6 +14631,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "12351" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV002505076.1" + } ] } }, @@ -14562,7 +14648,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-b8cc4e2fbe604134979c80e1aa8c4cee", + "id": "dv-3bbaa1e62567438db8586df47ee86d51", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -14635,7 +14721,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000002.12" + "code": "NC_000017.11" } ] } @@ -14654,8 +14740,8 @@ "coding": [ { "system": "http://loinc.org", - "code": "LA6705-3", - "display": "homozygous" + "code": "LA6706-1", + "display": "heterozygous" } ] } @@ -14674,16 +14760,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000002.12:47806411:C:G", - "display": "NC_000002.12:47806411:C:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "36594" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000052939.2" + "code": "NC_000017.11:7676153:G:C", + "display": "NC_000017.11:7676153:G:C" } ] } @@ -14699,7 +14777,7 @@ ] }, "valueQuantity": { - "value": 1.0, + "value": 0.5, "unit": "relative frequency of a particular allele in the specimen", "system": "http://unitsofmeasure.org", "code": "1" @@ -14715,7 +14793,7 @@ } ] }, - "valueString": "C" + "valueString": "G" }, { "code": { @@ -14727,7 +14805,7 @@ } ] }, - "valueString": "G" + "valueString": "C" }, { "code": { @@ -14761,7 +14839,7 @@ }, "valueRange": { "low": { - "value": 47806411 + "value": 7676153 } } }, @@ -14776,7 +14854,7 @@ ] }, "valueQuantity": { - "value": 0.733985, + "value": 0.668165, "system": "http://unitsofmeasure.org", "code": "1" } @@ -14788,7 +14866,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6395932091e78bf6bfd", + "id": "dv-62fab63a5932091e78bf6f98", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -14818,7 +14896,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-210349083123421e9899d9f21af3ef71" + "reference": "Observation/dv-70b3a31ae2224e559d8be65a11a9eddb" } ], "component": [ @@ -14873,9 +14951,19 @@ ] }, "valueCodeableConcept": { - "text": "reviewed by expert panel" + "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "36587" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000052932.2" + } ] } }, @@ -14883,7 +14971,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-210349083123421e9899d9f21af3ef71", + "id": "dv-70b3a31ae2224e559d8be65a11a9eddb", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -14995,16 +15083,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000002.12:47429661:G:A", - "display": "NC_000002.12:47429661:G:A" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "36564" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000107047.2" + "code": "NC_000002.12:47790941:A:G", + "display": "NC_000002.12:47790941:A:G" } ] } @@ -15036,7 +15116,7 @@ } ] }, - "valueString": "G" + "valueString": "A" }, { "code": { @@ -15048,7 +15128,7 @@ } ] }, - "valueString": "A" + "valueString": "G" }, { "code": { @@ -15082,9 +15162,25 @@ }, "valueRange": { "low": { - "value": 47429661 + "value": 47790941 } } + }, + { + "code": { + "coding": [ + { + "system": "http://loinc.org", + "code": "92821-8", + "display": "Population allele frequency" + } + ] + }, + "valueQuantity": { + "value": 0.134727, + "system": "http://unitsofmeasure.org", + "code": "1" + } } ] } @@ -15093,7 +15189,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6645932091e78c11177", + "id": "dv-62fab6665932091e78c1245b", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -15123,7 +15219,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-1aa0fdfa74344f23b55e811414e4dcdf" + "reference": "Observation/dv-ddbfcfdb118b4385a9dad7e38d9b6da5" } ], "component": [ @@ -15181,6 +15277,16 @@ "text": "reviewed by expert panel" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "90687" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000107200.2" + } ] } }, @@ -15188,7 +15294,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-1aa0fdfa74344f23b55e811414e4dcdf", + "id": "dv-ddbfcfdb118b4385a9dad7e38d9b6da5", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -15300,16 +15406,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000002.12:47792345:T:C", - "display": "NC_000002.12:47792345:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "89521" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000108207.2" + "code": "NC_000002.12:47465141:C:T", + "display": "NC_000002.12:47465141:C:T" } ] } @@ -15341,7 +15439,7 @@ } ] }, - "valueString": "T" + "valueString": "C" }, { "code": { @@ -15353,7 +15451,7 @@ } ] }, - "valueString": "C" + "valueString": "T" }, { "code": { @@ -15387,7 +15485,7 @@ }, "valueRange": { "low": { - "value": 47792345 + "value": 47465141 } } } @@ -15398,7 +15496,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6645932091e78c11178", + "id": "dv-62fab6655932091e78c11bb9", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -15428,7 +15526,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-234ee4ca3da04ab39f5ebfed027792dd" + "reference": "Observation/dv-aa7bc4cb064c41b8939860b917dde5af" } ], "component": [ @@ -15486,6 +15584,16 @@ "text": "reviewed by expert panel" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "90146" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000106634.2" + } ] } }, @@ -15493,7 +15601,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-234ee4ca3da04ab39f5ebfed027792dd", + "id": "dv-aa7bc4cb064c41b8939860b917dde5af", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -15566,7 +15674,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000002.12" + "code": "NC_000003.12" } ] } @@ -15585,8 +15693,8 @@ "coding": [ { "system": "http://loinc.org", - "code": "LA6706-1", - "display": "heterozygous" + "code": "LA6705-3", + "display": "homozygous" } ] } @@ -15605,16 +15713,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000002.12:47791516:T:C", - "display": "NC_000002.12:47791516:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "89525" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000108211.2" + "code": "NC_000003.12:37001468:A:C", + "display": "NC_000003.12:37001468:A:C" } ] } @@ -15630,7 +15730,7 @@ ] }, "valueQuantity": { - "value": 0.5, + "value": 1.0, "unit": "relative frequency of a particular allele in the specimen", "system": "http://unitsofmeasure.org", "code": "1" @@ -15646,7 +15746,7 @@ } ] }, - "valueString": "T" + "valueString": "A" }, { "code": { @@ -15692,7 +15792,7 @@ }, "valueRange": { "low": { - "value": 47791516 + "value": 37001468 } } } @@ -15703,7 +15803,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6645932091e78c10fbb", + "id": "dv-62fab6705932091e78c186e3", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -15733,7 +15833,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-32bc0d97fc48469c8f3bf615dc186530" + "reference": "Observation/dv-c05bb5adae894ebc865a6808c7685992" } ], "component": [ @@ -15771,8 +15871,8 @@ "coding": [ { "system": "https://www.ncbi.nlm.nih.gov/medgen", - "code": "C4552100", - "display": "Lynch syndrome" + "code": "C0677776", + "display": "Hereditary breast ovarian cancer syndrome" } ] } @@ -15788,9 +15888,19 @@ ] }, "valueCodeableConcept": { - "text": "reviewed by expert panel" + "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "133738" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV002025816.2" + } ] } }, @@ -15798,7 +15908,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-32bc0d97fc48469c8f3bf615dc186530", + "id": "dv-c05bb5adae894ebc865a6808c7685992", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -15871,7 +15981,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000002.12" + "code": "NC_000013.11" } ] } @@ -15910,16 +16020,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000002.12:47805797:T:C", - "display": "NC_000002.12:47805797:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "89432" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000108113.2" + "code": "NC_000013.11:32355249:T:C", + "display": "NC_000013.11:32355249:T:C" } ] } @@ -15997,9 +16099,25 @@ }, "valueRange": { "low": { - "value": 47805797 + "value": 32355249 } } + }, + { + "code": { + "coding": [ + { + "system": "http://loinc.org", + "code": "92821-8", + "display": "Population allele frequency" + } + ] + }, + "valueQuantity": { + "value": 0.994876, + "system": "http://unitsofmeasure.org", + "code": "1" + } } ] } @@ -16008,7 +16126,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab66f5932091e78c17cc2", + "id": "dv-62fab66c5932091e78c15c01", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -16038,7 +16156,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-c7c0803976fd4ab881f1588c713419ff" + "reference": "Observation/dv-edfe8714ceaf4687910f600e46f6806e" } ], "component": [ @@ -16096,6 +16214,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "126022" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV002026093.2" + } ] } }, @@ -16103,7 +16231,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-c7c0803976fd4ab881f1588c713419ff", + "id": "dv-edfe8714ceaf4687910f600e46f6806e", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -16215,16 +16343,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000013.11:32338917:A:G", - "display": "NC_000013.11:32338917:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132779" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000494326.1" + "code": "NC_000013.11:32338161:T:C", + "display": "NC_000013.11:32338161:T:C" } ] } @@ -16256,7 +16376,7 @@ } ] }, - "valueString": "A" + "valueString": "T" }, { "code": { @@ -16268,7 +16388,7 @@ } ] }, - "valueString": "G" + "valueString": "C" }, { "code": { @@ -16302,7 +16422,7 @@ }, "valueRange": { "low": { - "value": 32338917 + "value": 32338161 } } }, @@ -16317,7 +16437,7 @@ ] }, "valueQuantity": { - "value": 0.994359, + "value": 0.174603, "system": "http://unitsofmeasure.org", "code": "1" } @@ -16329,7 +16449,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab63a5932091e78bf6f6f", + "id": "dv-62fab6645932091e78c10df7", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -16359,7 +16479,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-db2c78d7a2d84f6a9a8927fb296cb567" + "reference": "Observation/dv-2439d4f778564bdd88dc95b2864fac18" } ], "component": [ @@ -16417,6 +16537,16 @@ "text": "reviewed by expert panel" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "89345" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000108022.2" + } ] } }, @@ -16424,7 +16554,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-db2c78d7a2d84f6a9a8927fb296cb567", + "id": "dv-2439d4f778564bdd88dc95b2864fac18", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -16516,8 +16646,8 @@ "coding": [ { "system": "http://loinc.org", - "code": "LA6706-1", - "display": "heterozygous" + "code": "LA6705-3", + "display": "homozygous" } ] } @@ -16536,16 +16666,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000002.12:47783418:C:A", - "display": "NC_000002.12:47783418:C:A" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "36584" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000107898.2" + "code": "NC_000002.12:47803318:G:C", + "display": "NC_000002.12:47803318:G:C" } ] } @@ -16561,7 +16683,7 @@ ] }, "valueQuantity": { - "value": 0.5, + "value": 1.0, "unit": "relative frequency of a particular allele in the specimen", "system": "http://unitsofmeasure.org", "code": "1" @@ -16577,7 +16699,7 @@ } ] }, - "valueString": "C" + "valueString": "G" }, { "code": { @@ -16589,7 +16711,7 @@ } ] }, - "valueString": "A" + "valueString": "C" }, { "code": { @@ -16623,25 +16745,9 @@ }, "valueRange": { "low": { - "value": 47783418 + "value": 47803318 } } - }, - { - "code": { - "coding": [ - { - "system": "http://loinc.org", - "code": "92821-8", - "display": "Population allele frequency" - } - ] - }, - "valueQuantity": { - "value": 0.14442, - "system": "http://unitsofmeasure.org", - "code": "1" - } } ] } @@ -16650,7 +16756,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6645932091e78c10f6f", + "id": "dv-62fab6665932091e78c12377", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -16680,7 +16786,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-3b3666df092d4e808a0d597a56a5022b" + "reference": "Observation/dv-4e13aba739b94934be7f63b77b87abf0" } ], "component": [ @@ -16738,6 +16844,16 @@ "text": "reviewed by expert panel" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "90609" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000107126.2" + } ] } }, @@ -16745,7 +16861,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-3b3666df092d4e808a0d597a56a5022b", + "id": "dv-4e13aba739b94934be7f63b77b87abf0", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -16857,16 +16973,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000002.12:47805186:T:C", - "display": "NC_000002.12:47805186:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "89411" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000108091.2" + "code": "NC_000002.12:47444602:A:C", + "display": "NC_000002.12:47444602:A:C" } ] } @@ -16898,7 +17006,7 @@ } ] }, - "valueString": "T" + "valueString": "A" }, { "code": { @@ -16944,7 +17052,7 @@ }, "valueRange": { "low": { - "value": 47805186 + "value": 47444602 } } } @@ -16955,7 +17063,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6ab5932091e78c3cfb3", + "id": "dv-62fab69e5932091e78c3549d", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -16985,7 +17093,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-dd6a5ae0dbc24360aea5a7c161101a68" + "reference": "Observation/dv-37304b7e844c41258d4a25a6dffada5b" } ], "component": [ @@ -17003,8 +17111,8 @@ "coding": [ { "system": "http://loinc.org", - "code": "LA26333-7", - "display": "Uncertain significance" + "code": "LA6675-8", + "display": "Benign" } ] } @@ -17023,8 +17131,8 @@ "coding": [ { "system": "https://www.ncbi.nlm.nih.gov/medgen", - "code": "C4552100", - "display": "Lynch syndrome" + "code": "C0020445", + "display": "Familial hypercholesterolemia" } ] } @@ -17043,6 +17151,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "252262" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001717062.2" + } ] } }, @@ -17050,7 +17168,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-dd6a5ae0dbc24360aea5a7c161101a68", + "id": "dv-37304b7e844c41258d4a25a6dffada5b", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -17123,7 +17241,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000002.12" + "code": "NC_000019.10" } ] } @@ -17142,8 +17260,8 @@ "coding": [ { "system": "http://loinc.org", - "code": "LA6706-1", - "display": "heterozygous" + "code": "LA6705-3", + "display": "homozygous" } ] } @@ -17162,16 +17280,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000002.12:47414420:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA", - "display": "NC_000002.12:47414420:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "336427" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000430917.2" + "code": "NC_000019.10:11123264:A:G", + "display": "NC_000019.10:11123264:A:G" } ] } @@ -17187,7 +17297,7 @@ ] }, "valueQuantity": { - "value": 0, + "value": 1.0, "unit": "relative frequency of a particular allele in the specimen", "system": "http://unitsofmeasure.org", "code": "1" @@ -17203,7 +17313,7 @@ } ] }, - "valueString": "TAA" + "valueString": "A" }, { "code": { @@ -17215,7 +17325,7 @@ } ] }, - "valueString": "T" + "valueString": "G" }, { "code": { @@ -17249,24 +17359,40 @@ }, "valueRange": { "low": { - "value": 47414419 + "value": 11123264 } } - } - ] - } - }, - { - "name": "implication", - "resource": { - "resourceType": "Observation", - "id": "dv-62fab68e5932091e78c2b13d", - "meta": { - "profile": [ - "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" - ] - }, - "status": "final", + }, + { + "code": { + "coding": [ + { + "system": "http://loinc.org", + "code": "92821-8", + "display": "Population allele frequency" + } + ] + }, + "valueQuantity": { + "value": 0.781146, + "system": "http://unitsofmeasure.org", + "code": "1" + } + } + ] + } + }, + { + "name": "implication", + "resource": { + "resourceType": "Observation", + "id": "dv-62fab6665932091e78c1262d", + "meta": { + "profile": [ + "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" + ] + }, + "status": "final", "category": [ { "coding": [ @@ -17290,7 +17416,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-87f77277c4c84151bb54754435b23d8c" + "reference": "Observation/dv-acb6861a2ae345cdae082be1563a4a66" } ], "component": [ @@ -17328,8 +17454,8 @@ "coding": [ { "system": "https://www.ncbi.nlm.nih.gov/medgen", - "code": "C0677776", - "display": "Hereditary breast ovarian cancer syndrome" + "code": "C4552100", + "display": "Lynch syndrome" } ] } @@ -17345,9 +17471,19 @@ ] }, "valueCodeableConcept": { - "text": "criteria provided, single submitter" + "text": "reviewed by expert panel" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "90846" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000107374.2" + } ] } }, @@ -17355,7 +17491,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-87f77277c4c84151bb54754435b23d8c", + "id": "dv-acb6861a2ae345cdae082be1563a4a66", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -17428,7 +17564,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000013.11" + "code": "NC_000002.12" } ] } @@ -17447,8 +17583,8 @@ "coding": [ { "system": "http://loinc.org", - "code": "LA6705-3", - "display": "homozygous" + "code": "LA6706-1", + "display": "heterozygous" } ] } @@ -17467,16 +17603,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000013.11:32315654:A:G", - "display": "NC_000013.11:32315654:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "209600" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001000937.4" + "code": "NC_000002.12:47476101:A:G", + "display": "NC_000002.12:47476101:A:G" } ] } @@ -17492,7 +17620,7 @@ ] }, "valueQuantity": { - "value": 1.0, + "value": 0.5, "unit": "relative frequency of a particular allele in the specimen", "system": "http://unitsofmeasure.org", "code": "1" @@ -17554,7 +17682,7 @@ }, "valueRange": { "low": { - "value": 32315654 + "value": 47476101 } } } @@ -17565,7 +17693,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab63a5932091e78bf6fe4", + "id": "dv-62fab66c5932091e78c15b7b", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -17595,7 +17723,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-aab391f842a14a79865639fc25b95ff9" + "reference": "Observation/dv-99d2b1819c554636b70c366c3f79f914" } ], "component": [ @@ -17633,8 +17761,8 @@ "coding": [ { "system": "https://www.ncbi.nlm.nih.gov/medgen", - "code": "C4552100", - "display": "Lynch syndrome" + "code": "C0677776", + "display": "Hereditary breast ovarian cancer syndrome" } ] } @@ -17650,9 +17778,19 @@ ] }, "valueCodeableConcept": { - "text": "reviewed by expert panel" + "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "125991" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001719551.2" + } ] } }, @@ -17660,7 +17798,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-aab391f842a14a79865639fc25b95ff9", + "id": "dv-99d2b1819c554636b70c366c3f79f914", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -17733,7 +17871,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000002.12" + "code": "NC_000013.11" } ] } @@ -17772,16 +17910,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000002.12:47795975:T:C", - "display": "NC_000002.12:47795975:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "36597" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000108224.2" + "code": "NC_000013.11:32316588:T:G", + "display": "NC_000013.11:32316588:T:G" } ] } @@ -17825,7 +17955,7 @@ } ] }, - "valueString": "C" + "valueString": "G" }, { "code": { @@ -17859,25 +17989,9 @@ }, "valueRange": { "low": { - "value": 47795975 + "value": 32316588 } } - }, - { - "code": { - "coding": [ - { - "system": "http://loinc.org", - "code": "92821-8", - "display": "Population allele frequency" - } - ] - }, - "valueQuantity": { - "value": 0.212977, - "system": "http://unitsofmeasure.org", - "code": "1" - } } ] } @@ -17886,7 +18000,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6675932091e78c13034", + "id": "dv-62fab6665932091e78c11f9b", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -17916,7 +18030,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-d35a9e4b945a443abf237057131c03e5" + "reference": "Observation/dv-994f4ecf114a4bbb92bdb40776afc9b3" } ], "component": [ @@ -17974,6 +18088,16 @@ "text": "reviewed by expert panel" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "90366" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000106871.2" + } ] } }, @@ -17981,7 +18105,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-d35a9e4b945a443abf237057131c03e5", + "id": "dv-994f4ecf114a4bbb92bdb40776afc9b3", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -18054,7 +18178,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000007.14" + "code": "NC_000003.12" } ] } @@ -18093,16 +18217,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000007.14:5999497:T:C", - "display": "NC_000007.14:5999497:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "91356" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000108367.2" + "code": "NC_000003.12:37015498:C:A", + "display": "NC_000003.12:37015498:C:A" } ] } @@ -18134,7 +18250,7 @@ } ] }, - "valueString": "T" + "valueString": "C" }, { "code": { @@ -18146,7 +18262,7 @@ } ] }, - "valueString": "C" + "valueString": "A" }, { "code": { @@ -18180,7 +18296,7 @@ }, "valueRange": { "low": { - "value": 5999497 + "value": 37015498 } } } @@ -18191,7 +18307,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6645932091e78c10f67", + "id": "dv-62fab66f5932091e78c17cb2", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -18221,7 +18337,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-db238eae873046a1bd607a546dc9381e" + "reference": "Observation/dv-c7c0803976fd4ab881f1588c713419ff" } ], "component": [ @@ -18259,8 +18375,8 @@ "coding": [ { "system": "https://www.ncbi.nlm.nih.gov/medgen", - "code": "C4552100", - "display": "Lynch syndrome" + "code": "C0677776", + "display": "Hereditary breast ovarian cancer syndrome" } ] } @@ -18276,9 +18392,19 @@ ] }, "valueCodeableConcept": { - "text": "reviewed by expert panel" + "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132779" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV002026104.2" + } ] } }, @@ -18286,7 +18412,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-db238eae873046a1bd607a546dc9381e", + "id": "dv-c7c0803976fd4ab881f1588c713419ff", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -18359,7 +18485,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000002.12" + "code": "NC_000013.11" } ] } @@ -18378,8 +18504,8 @@ "coding": [ { "system": "http://loinc.org", - "code": "LA6706-1", - "display": "heterozygous" + "code": "LA6705-3", + "display": "homozygous" } ] } @@ -18398,16 +18524,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000002.12:47805172:G:A", - "display": "NC_000002.12:47805172:G:A" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "89410" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000108090.2" + "code": "NC_000013.11:32338917:A:G", + "display": "NC_000013.11:32338917:A:G" } ] } @@ -18423,7 +18541,7 @@ ] }, "valueQuantity": { - "value": 0.5, + "value": 1.0, "unit": "relative frequency of a particular allele in the specimen", "system": "http://unitsofmeasure.org", "code": "1" @@ -18439,7 +18557,7 @@ } ] }, - "valueString": "G" + "valueString": "A" }, { "code": { @@ -18451,7 +18569,7 @@ } ] }, - "valueString": "A" + "valueString": "G" }, { "code": { @@ -18485,9 +18603,25 @@ }, "valueRange": { "low": { - "value": 47805172 + "value": 32338917 } } + }, + { + "code": { + "coding": [ + { + "system": "http://loinc.org", + "code": "92821-8", + "display": "Population allele frequency" + } + ] + }, + "valueQuantity": { + "value": 0.994359, + "system": "http://unitsofmeasure.org", + "code": "1" + } } ] } @@ -18496,7 +18630,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6665932091e78c11fa3", + "id": "dv-62fab6645932091e78c10b9c", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -18526,7 +18660,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-e1932783d03241559c7627fcde3fbec2" + "reference": "Observation/dv-6b10bc016d794b2d891a2da2b7b49512" } ], "component": [ @@ -18584,6 +18718,16 @@ "text": "reviewed by expert panel" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "89300" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000107976.2" + } ] } }, @@ -18591,7 +18735,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-e1932783d03241559c7627fcde3fbec2", + "id": "dv-6b10bc016d794b2d891a2da2b7b49512", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -18664,7 +18808,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000003.12" + "code": "NC_000002.12" } ] } @@ -18683,8 +18827,8 @@ "coding": [ { "system": "http://loinc.org", - "code": "LA6705-3", - "display": "homozygous" + "code": "LA6706-1", + "display": "heterozygous" } ] } @@ -18703,16 +18847,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000003.12:37016099:C:T", - "display": "NC_000003.12:37016099:C:T" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "90368" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000106876.2" + "code": "NC_000002.12:47789756:G:T", + "display": "NC_000002.12:47789756:G:T" } ] } @@ -18728,7 +18864,7 @@ ] }, "valueQuantity": { - "value": 1.0, + "value": 0.5, "unit": "relative frequency of a particular allele in the specimen", "system": "http://unitsofmeasure.org", "code": "1" @@ -18744,7 +18880,7 @@ } ] }, - "valueString": "C" + "valueString": "G" }, { "code": { @@ -18790,7 +18926,7 @@ }, "valueRange": { "low": { - "value": 37016099 + "value": 47789756 } } } @@ -18801,7 +18937,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab66e5932091e78c176b0", + "id": "dv-62fab6655932091e78c11695", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -18831,7 +18967,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-719286980a454cc792902098a0122614" + "reference": "Observation/dv-86d0233b22f3488197627b36c7594a73" } ], "component": [ @@ -18869,8 +19005,8 @@ "coding": [ { "system": "https://www.ncbi.nlm.nih.gov/medgen", - "code": "C0020445", - "display": "Familial hypercholesterolemia" + "code": "C4552100", + "display": "Lynch syndrome" } ] } @@ -18886,9 +19022,19 @@ ] }, "valueCodeableConcept": { - "text": "criteria provided, single submitter" + "text": "reviewed by expert panel" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "89830" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000106300.2" + } ] } }, @@ -18896,7 +19042,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-719286980a454cc792902098a0122614", + "id": "dv-86d0233b22f3488197627b36c7594a73", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -18969,7 +19115,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000002.12" + "code": "NC_000003.12" } ] } @@ -18988,8 +19134,8 @@ "coding": [ { "system": "http://loinc.org", - "code": "LA6706-1", - "display": "heterozygous" + "code": "LA6705-3", + "display": "homozygous" } ] } @@ -19008,16 +19154,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000002.12:21005954:C:T", - "display": "NC_000002.12:21005954:C:T" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "128416" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000902556.1" + "code": "NC_000003.12:37041382:T:C", + "display": "NC_000003.12:37041382:T:C" } ] } @@ -19033,7 +19171,7 @@ ] }, "valueQuantity": { - "value": 0.5, + "value": 1.0, "unit": "relative frequency of a particular allele in the specimen", "system": "http://unitsofmeasure.org", "code": "1" @@ -19049,7 +19187,7 @@ } ] }, - "valueString": "C" + "valueString": "T" }, { "code": { @@ -19061,7 +19199,7 @@ } ] }, - "valueString": "T" + "valueString": "C" }, { "code": { @@ -19095,25 +19233,9 @@ }, "valueRange": { "low": { - "value": 21005954 + "value": 37041382 } } - }, - { - "code": { - "coding": [ - { - "system": "http://loinc.org", - "code": "92821-8", - "display": "Population allele frequency" - } - ] - }, - "valueQuantity": { - "value": 0.0700284, - "system": "http://unitsofmeasure.org", - "code": "1" - } } ] } @@ -19122,7 +19244,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6665932091e78c126e8", + "id": "dv-62fab6305932091e78bf264e", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -19152,7 +19274,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-4bde3f4b60a843a88d84e9974aa86fa7" + "reference": "Observation/dv-5c81355782d446179e37701af154f50b" } ], "component": [ @@ -19190,8 +19312,8 @@ "coding": [ { "system": "https://www.ncbi.nlm.nih.gov/medgen", - "code": "C4552100", - "display": "Lynch syndrome" + "code": "C0020445", + "display": "Familial hypercholesterolemia" } ] } @@ -19207,9 +19329,19 @@ ] }, "valueCodeableConcept": { - "text": "reviewed by expert panel" + "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "2878" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000690958.2" + } ] } }, @@ -19217,7 +19349,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-4bde3f4b60a843a88d84e9974aa86fa7", + "id": "dv-5c81355782d446179e37701af154f50b", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -19290,7 +19422,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000002.12" + "code": "NC_000001.11" } ] } @@ -19329,16 +19461,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000002.12:47476887:G:C", - "display": "NC_000002.12:47476887:G:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "90924" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000107454.2" + "code": "NC_000001.11:55039973:G:T", + "display": "NC_000001.11:55039973:G:T" } ] } @@ -19382,7 +19506,7 @@ } ] }, - "valueString": "C" + "valueString": "T" }, { "code": { @@ -19416,9 +19540,25 @@ }, "valueRange": { "low": { - "value": 47476887 + "value": 55039973 } } + }, + { + "code": { + "coding": [ + { + "system": "http://loinc.org", + "code": "92821-8", + "display": "Population allele frequency" + } + ] + }, + "valueQuantity": { + "value": 0.0119305, + "system": "http://unitsofmeasure.org", + "code": "1" + } } ] } @@ -19427,7 +19567,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab63a5932091e78bf6fcc", + "id": "dv-62fab68a5932091e78c28ec6", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -19457,7 +19597,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-b8cc4e2fbe604134979c80e1aa8c4cee" + "reference": "Observation/dv-f2d0de4c461c487fa0d7b2b0a9034361" } ], "component": [ @@ -19495,8 +19635,8 @@ "coding": [ { "system": "https://www.ncbi.nlm.nih.gov/medgen", - "code": "C4552100", - "display": "Lynch syndrome" + "code": "C0020445", + "display": "Familial hypercholesterolemia" } ] } @@ -19512,9 +19652,19 @@ ] }, "valueCodeableConcept": { - "text": "reviewed by expert panel" + "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "200916" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001729839.2" + } ] } }, @@ -19522,7 +19672,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-b8cc4e2fbe604134979c80e1aa8c4cee", + "id": "dv-f2d0de4c461c487fa0d7b2b0a9034361", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -19595,7 +19745,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000002.12" + "code": "NC_000019.10" } ] } @@ -19614,8 +19764,8 @@ "coding": [ { "system": "http://loinc.org", - "code": "LA6705-3", - "display": "homozygous" + "code": "LA6706-1", + "display": "heterozygous" } ] } @@ -19634,16 +19784,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000002.12:47806411:C:G", - "display": "NC_000002.12:47806411:C:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "36594" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000108147.2" + "code": "NC_000019.10:11113588:A:G", + "display": "NC_000019.10:11113588:A:G" } ] } @@ -19659,7 +19801,7 @@ ] }, "valueQuantity": { - "value": 1.0, + "value": 0.5, "unit": "relative frequency of a particular allele in the specimen", "system": "http://unitsofmeasure.org", "code": "1" @@ -19675,7 +19817,7 @@ } ] }, - "valueString": "C" + "valueString": "A" }, { "code": { @@ -19721,7 +19863,7 @@ }, "valueRange": { "low": { - "value": 47806411 + "value": 11113588 } } }, @@ -19736,7 +19878,7 @@ ] }, "valueQuantity": { - "value": 0.733985, + "value": 0.632026, "system": "http://unitsofmeasure.org", "code": "1" } @@ -19748,7 +19890,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab66c5932091e78c15c00", + "id": "dv-62fab6645932091e78c10fb4", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -19778,7 +19920,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-edfe8714ceaf4687910f600e46f6806e" + "reference": "Observation/dv-a71417cfb7164f2090e77f29a9ead21a" } ], "component": [ @@ -19816,8 +19958,8 @@ "coding": [ { "system": "https://www.ncbi.nlm.nih.gov/medgen", - "code": "C0677776", - "display": "Hereditary breast ovarian cancer syndrome" + "code": "C4552100", + "display": "Lynch syndrome" } ] } @@ -19833,9 +19975,19 @@ ] }, "valueCodeableConcept": { - "text": "criteria provided, single submitter" + "text": "reviewed by expert panel" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "89429" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000108111.2" + } ] } }, @@ -19843,7 +19995,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-edfe8714ceaf4687910f600e46f6806e", + "id": "dv-a71417cfb7164f2090e77f29a9ead21a", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -19916,7 +20068,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000013.11" + "code": "NC_000002.12" } ] } @@ -19935,8 +20087,8 @@ "coding": [ { "system": "http://loinc.org", - "code": "LA6705-3", - "display": "homozygous" + "code": "LA6706-1", + "display": "heterozygous" } ] } @@ -19955,16 +20107,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000013.11:32338161:T:C", - "display": "NC_000013.11:32338161:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "126022" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000494320.1" + "code": "NC_000002.12:47805735:CTATCTATCT:CTATCT", + "display": "NC_000002.12:47805735:CTATCTATCT:CTATCT" } ] } @@ -19980,7 +20124,7 @@ ] }, "valueQuantity": { - "value": 1.0, + "value": 0.5, "unit": "relative frequency of a particular allele in the specimen", "system": "http://unitsofmeasure.org", "code": "1" @@ -19996,7 +20140,7 @@ } ] }, - "valueString": "T" + "valueString": "ACTAT" }, { "code": { @@ -20008,7 +20152,7 @@ } ] }, - "valueString": "C" + "valueString": "A" }, { "code": { @@ -20042,7 +20186,7 @@ }, "valueRange": { "low": { - "value": 32338161 + "value": 47805734 } } }, @@ -20057,7 +20201,7 @@ ] }, "valueQuantity": { - "value": 0.174603, + "value": 0.6847, "system": "http://unitsofmeasure.org", "code": "1" } @@ -20069,7 +20213,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab63a5932091e78bf71d5", + "id": "dv-62fab63a5932091e78bf6f6e", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -20099,7 +20243,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-38f8d84905ff4a5e9547b1e339f3ce02" + "reference": "Observation/dv-db2c78d7a2d84f6a9a8927fb296cb567" } ], "component": [ @@ -20154,9 +20298,19 @@ ] }, "valueCodeableConcept": { - "text": "no assertion criteria provided" + "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "36584" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000052928.2" + } ] } }, @@ -20164,7 +20318,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-38f8d84905ff4a5e9547b1e339f3ce02", + "id": "dv-db2c78d7a2d84f6a9a8927fb296cb567", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -20237,7 +20391,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000007.14" + "code": "NC_000002.12" } ] } @@ -20256,8 +20410,8 @@ "coding": [ { "system": "http://loinc.org", - "code": "LA6705-3", - "display": "homozygous" + "code": "LA6706-1", + "display": "heterozygous" } ] } @@ -20276,16 +20430,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000007.14:5987356:G:A", - "display": "NC_000007.14:5987356:G:A" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "36685" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000053031.2" + "code": "NC_000002.12:47783418:C:A", + "display": "NC_000002.12:47783418:C:A" } ] } @@ -20301,7 +20447,7 @@ ] }, "valueQuantity": { - "value": 1.0, + "value": 0.5, "unit": "relative frequency of a particular allele in the specimen", "system": "http://unitsofmeasure.org", "code": "1" @@ -20317,7 +20463,7 @@ } ] }, - "valueString": "G" + "valueString": "C" }, { "code": { @@ -20363,7 +20509,7 @@ }, "valueRange": { "low": { - "value": 5987356 + "value": 47783418 } } }, @@ -20378,7 +20524,7 @@ ] }, "valueQuantity": { - "value": 0.387786, + "value": 0.14442, "system": "http://unitsofmeasure.org", "code": "1" } @@ -20390,7 +20536,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6ab5932091e78c3cfb0", + "id": "dv-62fab69e5932091e78c34f8c", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -20420,7 +20566,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-dd6a5ae0dbc24360aea5a7c161101a68" + "reference": "Observation/dv-b5fde7b61b29434bb495e2bca5859063" } ], "component": [ @@ -20438,8 +20584,8 @@ "coding": [ { "system": "http://loinc.org", - "code": "LA26333-7", - "display": "Uncertain significance" + "code": "LA6675-8", + "display": "Benign" } ] } @@ -20458,8 +20604,8 @@ "coding": [ { "system": "https://www.ncbi.nlm.nih.gov/medgen", - "code": "C4552100", - "display": "Lynch syndrome" + "code": "C0020445", + "display": "Familial hypercholesterolemia" } ] } @@ -20478,6 +20624,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "251936" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001727625.2" + } ] } }, @@ -20485,7 +20641,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-dd6a5ae0dbc24360aea5a7c161101a68", + "id": "dv-b5fde7b61b29434bb495e2bca5859063", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -20558,7 +20714,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000002.12" + "code": "NC_000019.10" } ] } @@ -20597,16 +20753,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000002.12:47414420:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA", - "display": "NC_000002.12:47414420:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "336427" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000430916.2" + "code": "NC_000019.10:11116123:C:T", + "display": "NC_000019.10:11116123:C:T" } ] } @@ -20622,7 +20770,7 @@ ] }, "valueQuantity": { - "value": 0, + "value": 0.5, "unit": "relative frequency of a particular allele in the specimen", "system": "http://unitsofmeasure.org", "code": "1" @@ -20638,7 +20786,7 @@ } ] }, - "valueString": "TAA" + "valueString": "C" }, { "code": { @@ -20684,9 +20832,25 @@ }, "valueRange": { "low": { - "value": 47414419 + "value": 11116123 } } + }, + { + "code": { + "coding": [ + { + "system": "http://loinc.org", + "code": "92821-8", + "display": "Population allele frequency" + } + ] + }, + "valueQuantity": { + "value": 0.0756166, + "system": "http://unitsofmeasure.org", + "code": "1" + } } ] } @@ -20695,7 +20859,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab63a5932091e78bf7251", + "id": "dv-62fab6995932091e78c31f8b", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -20725,7 +20889,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-4435221b91444669b3f6237f6b6fa954" + "reference": "Observation/dv-9bd8faa16b7f4b1d9a8d4c14b358b7db" } ], "component": [ @@ -20763,8 +20927,8 @@ "coding": [ { "system": "https://www.ncbi.nlm.nih.gov/medgen", - "code": "C4552100", - "display": "Lynch syndrome" + "code": "C0020445", + "display": "Familial hypercholesterolemia" } ] } @@ -20780,9 +20944,19 @@ ] }, "valueCodeableConcept": { - "text": "reviewed by expert panel" + "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "235043" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000912224.1" + } ] } }, @@ -20790,7 +20964,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-4435221b91444669b3f6237f6b6fa954", + "id": "dv-9bd8faa16b7f4b1d9a8d4c14b358b7db", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -20863,7 +21037,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000007.14" + "code": "NC_000001.11" } ] } @@ -20882,8 +21056,8 @@ "coding": [ { "system": "http://loinc.org", - "code": "LA6705-3", - "display": "homozygous" + "code": "LA6706-1", + "display": "heterozygous" } ] } @@ -20902,16 +21076,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000007.14:5999090:T:C", - "display": "NC_000007.14:5999090:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "36692" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000108377.2" + "code": "NC_000001.11:55039879:CTGCTGCTGCTGCTGCTGCTGCT:CTGCTGCTGCTGCTGCTGCTGCTGCT", + "display": "NC_000001.11:55039879:CTGCTGCTGCTGCTGCTGCTGCT:CTGCTGCTGCTGCTGCTGCTGCTGCT" } ] } @@ -20927,7 +21093,7 @@ ] }, "valueQuantity": { - "value": 1.0, + "value": 0.5, "unit": "relative frequency of a particular allele in the specimen", "system": "http://unitsofmeasure.org", "code": "1" @@ -20943,7 +21109,7 @@ } ] }, - "valueString": "T" + "valueString": "A" }, { "code": { @@ -20955,7 +21121,7 @@ } ] }, - "valueString": "C" + "valueString": "ACTG" }, { "code": { @@ -20989,7 +21155,7 @@ }, "valueRange": { "low": { - "value": 5999090 + "value": 55039878 } } }, @@ -21004,7 +21170,7 @@ ] }, "valueQuantity": { - "value": 0.368213, + "value": 0.121721, "system": "http://unitsofmeasure.org", "code": "1" } @@ -21016,7 +21182,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6395932091e78bf6b0a", + "id": "dv-62fab63a5932091e78bf7276", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -21046,7 +21212,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-437c728d910a46189036896c9a3fe97f" + "reference": "Observation/dv-5940367f4ed843f59a836f0cdce1dafe" } ], "component": [ @@ -21101,9 +21267,19 @@ ] }, "valueCodeableConcept": { - "text": "criteria provided, single submitter" + "text": "reviewed by expert panel" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "36693" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000108381.2" + } ] } }, @@ -21111,7 +21287,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-437c728d910a46189036896c9a3fe97f", + "id": "dv-5940367f4ed843f59a836f0cdce1dafe", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -21184,7 +21360,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000003.12" + "code": "NC_000007.14" } ] } @@ -21223,16 +21399,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000003.12:37042248:A:G", - "display": "NC_000003.12:37042248:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "36542" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000052882.2" + "code": "NC_000007.14:5997348:G:C", + "display": "NC_000007.14:5997348:G:C" } ] } @@ -21264,7 +21432,7 @@ } ] }, - "valueString": "A" + "valueString": "G" }, { "code": { @@ -21276,7 +21444,7 @@ } ] }, - "valueString": "G" + "valueString": "C" }, { "code": { @@ -21310,7 +21478,7 @@ }, "valueRange": { "low": { - "value": 37042248 + "value": 5997348 } } }, @@ -21325,7 +21493,7 @@ ] }, "valueQuantity": { - "value": 0.370828, + "value": 0.8018, "system": "http://unitsofmeasure.org", "code": "1" } @@ -21337,7 +21505,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab66f5932091e78c17cd7", + "id": "dv-62fab6645932091e78c10b95", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -21367,7 +21535,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-d47c74da1d8340e3976b600eedc794ac" + "reference": "Observation/dv-49a4913593454c339fb981bd5144d9a6" } ], "component": [ @@ -21405,8 +21573,8 @@ "coding": [ { "system": "https://www.ncbi.nlm.nih.gov/medgen", - "code": "C0677776", - "display": "Hereditary breast ovarian cancer syndrome" + "code": "C4552100", + "display": "Lynch syndrome" } ] } @@ -21422,9 +21590,19 @@ ] }, "valueCodeableConcept": { - "text": "criteria provided, single submitter" + "text": "reviewed by expert panel" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "89295" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000107970.2" + } ] } }, @@ -21432,7 +21610,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-d47c74da1d8340e3976b600eedc794ac", + "id": "dv-49a4913593454c339fb981bd5144d9a6", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -21505,7 +21683,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000013.11" + "code": "NC_000002.12" } ] } @@ -21524,8 +21702,8 @@ "coding": [ { "system": "http://loinc.org", - "code": "LA6705-3", - "display": "homozygous" + "code": "LA6706-1", + "display": "heterozygous" } ] } @@ -21544,16 +21722,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000013.11:32340867:G:C", - "display": "NC_000013.11:32340867:G:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132780" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000635514.5" + "code": "NC_000002.12:47783514:C:G", + "display": "NC_000002.12:47783514:C:G" } ] } @@ -21569,7 +21739,7 @@ ] }, "valueQuantity": { - "value": 1.0, + "value": 0.5, "unit": "relative frequency of a particular allele in the specimen", "system": "http://unitsofmeasure.org", "code": "1" @@ -21585,7 +21755,7 @@ } ] }, - "valueString": "G" + "valueString": "C" }, { "code": { @@ -21597,7 +21767,7 @@ } ] }, - "valueString": "C" + "valueString": "G" }, { "code": { @@ -21631,7 +21801,7 @@ }, "valueRange": { "low": { - "value": 32340867 + "value": 47783514 } } }, @@ -21646,7 +21816,7 @@ ] }, "valueQuantity": { - "value": 0.994199, + "value": 0.13896, "system": "http://unitsofmeasure.org", "code": "1" } @@ -21658,7 +21828,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab66f5932091e78c17ce1", + "id": "dv-62fab66f5932091e78c17ccc", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -21746,6 +21916,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132780" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV002025800.2" + } ] } }, @@ -21867,14 +22047,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.11:32340867:G:C", "display": "NC_000013.11:32340867:G:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132780" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000494339.1" } ] } @@ -21979,7 +22151,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6655932091e78c11355", + "id": "dv-62fab6905932091e78c2c79a", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -22009,7 +22181,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-8154922662b44a9aa5260207fea8d5b6" + "reference": "Observation/dv-e28737e34fd843fbbe1717b56b96d1f8" } ], "component": [ @@ -22064,9 +22236,19 @@ ] }, "valueCodeableConcept": { - "text": "reviewed by expert panel" + "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "218461" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000257707.2" + } ] } }, @@ -22074,7 +22256,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-8154922662b44a9aa5260207fea8d5b6", + "id": "dv-e28737e34fd843fbbe1717b56b96d1f8", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -22147,7 +22329,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000002.12" + "code": "NC_000007.14" } ] } @@ -22186,16 +22368,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000002.12:47797736:C:T", - "display": "NC_000002.12:47797736:C:T" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "89544" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000108233.2" + "code": "NC_000007.14:5997426:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA", + "display": "NC_000007.14:5997426:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA" } ] } @@ -22227,7 +22401,7 @@ } ] }, - "valueString": "C" + "valueString": "GA" }, { "code": { @@ -22239,7 +22413,7 @@ } ] }, - "valueString": "T" + "valueString": "G" }, { "code": { @@ -22273,9 +22447,25 @@ }, "valueRange": { "low": { - "value": 47797736 + "value": 5997425 } } + }, + { + "code": { + "coding": [ + { + "system": "http://loinc.org", + "code": "92821-8", + "display": "Population allele frequency" + } + ] + }, + "valueQuantity": { + "value": 0.430816, + "system": "http://unitsofmeasure.org", + "code": "1" + } } ] } @@ -22284,7 +22474,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6655932091e78c11a58", + "id": "dv-62fab6655932091e78c11493", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -22314,7 +22504,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-396515d9058748f2a3ce8d4e5149620b" + "reference": "Observation/dv-324e0f6400104fc4846edb4fa8d66008" } ], "component": [ @@ -22372,6 +22562,16 @@ "text": "reviewed by expert panel" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "89625" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000106085.2" + } ] } }, @@ -22379,7 +22579,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-396515d9058748f2a3ce8d4e5149620b", + "id": "dv-324e0f6400104fc4846edb4fa8d66008", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -22491,16 +22691,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000003.12:36997279:C:T", - "display": "NC_000003.12:36997279:C:T" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "90024" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000106504.2" + "code": "NC_000003.12:37025558:A:G", + "display": "NC_000003.12:37025558:A:G" } ] } @@ -22532,7 +22724,7 @@ } ] }, - "valueString": "C" + "valueString": "A" }, { "code": { @@ -22544,7 +22736,7 @@ } ] }, - "valueString": "T" + "valueString": "G" }, { "code": { @@ -22578,7 +22770,7 @@ }, "valueRange": { "low": { - "value": 36997279 + "value": 37025558 } } } @@ -22589,7 +22781,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab66f5932091e78c17cbd", + "id": "dv-62fab6665932091e78c12386", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -22619,7 +22811,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-c7c0803976fd4ab881f1588c713419ff" + "reference": "Observation/dv-7dcdefbf50b7446eb461e5d998247478" } ], "component": [ @@ -22657,8 +22849,8 @@ "coding": [ { "system": "https://www.ncbi.nlm.nih.gov/medgen", - "code": "C0677776", - "display": "Hereditary breast ovarian cancer syndrome" + "code": "C4552100", + "display": "Lynch syndrome" } ] } @@ -22674,9 +22866,19 @@ ] }, "valueCodeableConcept": { - "text": "criteria provided, single submitter" + "text": "reviewed by expert panel" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "90599" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000107117.2" + } ] } }, @@ -22684,7 +22886,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-c7c0803976fd4ab881f1588c713419ff", + "id": "dv-7dcdefbf50b7446eb461e5d998247478", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -22757,7 +22959,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000013.11" + "code": "NC_000002.12" } ] } @@ -22776,8 +22978,8 @@ "coding": [ { "system": "http://loinc.org", - "code": "LA6705-3", - "display": "homozygous" + "code": "LA6706-1", + "display": "heterozygous" } ] } @@ -22796,16 +22998,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000013.11:32338917:A:G", - "display": "NC_000013.11:32338917:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132779" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000635377.5" + "code": "NC_000002.12:47445429:G:A", + "display": "NC_000002.12:47445429:G:A" } ] } @@ -22821,7 +23015,7 @@ ] }, "valueQuantity": { - "value": 1.0, + "value": 0.5, "unit": "relative frequency of a particular allele in the specimen", "system": "http://unitsofmeasure.org", "code": "1" @@ -22837,7 +23031,7 @@ } ] }, - "valueString": "A" + "valueString": "G" }, { "code": { @@ -22849,7 +23043,7 @@ } ] }, - "valueString": "G" + "valueString": "A" }, { "code": { @@ -22883,25 +23077,9 @@ }, "valueRange": { "low": { - "value": 32338917 + "value": 47445429 } } - }, - { - "code": { - "coding": [ - { - "system": "http://loinc.org", - "code": "92821-8", - "display": "Population allele frequency" - } - ] - }, - "valueQuantity": { - "value": 0.994359, - "system": "http://unitsofmeasure.org", - "code": "1" - } } ] } @@ -22910,7 +23088,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab63a5932091e78bf6f9a", + "id": "dv-62fab6655932091e78c119bb", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -22940,7 +23118,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-70b3a31ae2224e559d8be65a11a9eddb" + "reference": "Observation/dv-983532b4ef8b4928978bfaeba42af3db" } ], "component": [ @@ -22998,6 +23176,16 @@ "text": "reviewed by expert panel" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "89983" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000106463.2" + } ] } }, @@ -23005,7 +23193,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-70b3a31ae2224e559d8be65a11a9eddb", + "id": "dv-983532b4ef8b4928978bfaeba42af3db", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -23078,7 +23266,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000002.12" + "code": "NC_000003.12" } ] } @@ -23097,8 +23285,8 @@ "coding": [ { "system": "http://loinc.org", - "code": "LA6706-1", - "display": "heterozygous" + "code": "LA6705-3", + "display": "homozygous" } ] } @@ -23117,16 +23305,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000002.12:47790941:A:G", - "display": "NC_000002.12:47790941:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "36587" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000107992.2" + "code": "NC_000003.12:37048782:C:T", + "display": "NC_000003.12:37048782:C:T" } ] } @@ -23142,7 +23322,7 @@ ] }, "valueQuantity": { - "value": 0.5, + "value": 1.0, "unit": "relative frequency of a particular allele in the specimen", "system": "http://unitsofmeasure.org", "code": "1" @@ -23158,7 +23338,7 @@ } ] }, - "valueString": "A" + "valueString": "C" }, { "code": { @@ -23170,7 +23350,7 @@ } ] }, - "valueString": "G" + "valueString": "T" }, { "code": { @@ -23204,25 +23384,9 @@ }, "valueRange": { "low": { - "value": 47790941 + "value": 37048782 } } - }, - { - "code": { - "coding": [ - { - "system": "http://loinc.org", - "code": "92821-8", - "display": "Population allele frequency" - } - ] - }, - "valueQuantity": { - "value": 0.134727, - "system": "http://unitsofmeasure.org", - "code": "1" - } } ] } @@ -23231,7 +23395,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6435932091e78bfc9ac", + "id": "dv-62fab66e5932091e78c17715", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -23261,7 +23425,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-5071403516aa4a17871949bf246b8b5d" + "reference": "Observation/dv-1692d4f52d4944a391a1e1e57347d8eb" } ], "component": [ @@ -23299,8 +23463,8 @@ "coding": [ { "system": "https://www.ncbi.nlm.nih.gov/medgen", - "code": "C4552100", - "display": "Lynch syndrome" + "code": "C0020445", + "display": "Familial hypercholesterolemia" } ] } @@ -23316,9 +23480,19 @@ ] }, "valueCodeableConcept": { - "text": "reviewed by expert panel" + "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "128422" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV002524050.1" + } ] } }, @@ -23326,7 +23500,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-5071403516aa4a17871949bf246b8b5d", + "id": "dv-1692d4f52d4944a391a1e1e57347d8eb", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -23418,8 +23592,8 @@ "coding": [ { "system": "http://loinc.org", - "code": "LA6705-3", - "display": "homozygous" + "code": "LA6706-1", + "display": "heterozygous" } ] } @@ -23438,16 +23612,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000002.12:47803698:A:T", - "display": "NC_000002.12:47803698:A:T" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "42471" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000108065.2" + "code": "NC_000002.12:21041027:G:A", + "display": "NC_000002.12:21041027:G:A" } ] } @@ -23463,7 +23629,7 @@ ] }, "valueQuantity": { - "value": 1.0, + "value": 0.5, "unit": "relative frequency of a particular allele in the specimen", "system": "http://unitsofmeasure.org", "code": "1" @@ -23479,7 +23645,7 @@ } ] }, - "valueString": "A" + "valueString": "G" }, { "code": { @@ -23491,7 +23657,7 @@ } ] }, - "valueString": "T" + "valueString": "A" }, { "code": { @@ -23525,7 +23691,7 @@ }, "valueRange": { "low": { - "value": 47803698 + "value": 21041027 } } }, @@ -23540,7 +23706,7 @@ ] }, "valueQuantity": { - "value": 0.411752, + "value": 0.25802, "system": "http://unitsofmeasure.org", "code": "1" } @@ -23552,7 +23718,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6655932091e78c11615", + "id": "dv-62fab6645932091e78c10b92", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -23582,7 +23748,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-e8e157f976b34a78ab1210328a2acd53" + "reference": "Observation/dv-fc120b4aab9444d0b262a5d3036026b9" } ], "component": [ @@ -23640,6 +23806,16 @@ "text": "reviewed by expert panel" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "89294" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000107969.2" + } ] } }, @@ -23647,7 +23823,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-e8e157f976b34a78ab1210328a2acd53", + "id": "dv-fc120b4aab9444d0b262a5d3036026b9", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -23720,7 +23896,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000003.12" + "code": "NC_000002.12" } ] } @@ -23739,8 +23915,8 @@ "coding": [ { "system": "http://loinc.org", - "code": "LA6705-3", - "display": "homozygous" + "code": "LA6706-1", + "display": "heterozygous" } ] } @@ -23759,16 +23935,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000003.12:37031135:A:C", - "display": "NC_000003.12:37031135:A:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "89773" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000106243.2" + "code": "NC_000002.12:47785706:C:T", + "display": "NC_000002.12:47785706:C:T" } ] } @@ -23784,7 +23952,7 @@ ] }, "valueQuantity": { - "value": 1.0, + "value": 0.5, "unit": "relative frequency of a particular allele in the specimen", "system": "http://unitsofmeasure.org", "code": "1" @@ -23800,7 +23968,7 @@ } ] }, - "valueString": "A" + "valueString": "C" }, { "code": { @@ -23812,7 +23980,7 @@ } ] }, - "valueString": "C" + "valueString": "T" }, { "code": { @@ -23846,7 +24014,7 @@ }, "valueRange": { "low": { - "value": 37031135 + "value": 47785706 } } } @@ -23857,7 +24025,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6655932091e78c1146d", + "id": "dv-62fab6645932091e78c10b9e", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -23887,7 +24055,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-89eb7b13687a4828baa470fb82be0c0d" + "reference": "Observation/dv-525568db5bbb42e79c7b9c4b5d27fd28" } ], "component": [ @@ -23945,6 +24113,16 @@ "text": "reviewed by expert panel" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "89301" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000107977.2" + } ] } }, @@ -23952,7 +24130,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-89eb7b13687a4828baa470fb82be0c0d", + "id": "dv-525568db5bbb42e79c7b9c4b5d27fd28", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -24025,7 +24203,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000003.12" + "code": "NC_000002.12" } ] } @@ -24044,8 +24222,8 @@ "coding": [ { "system": "http://loinc.org", - "code": "LA6705-3", - "display": "homozygous" + "code": "LA6706-1", + "display": "heterozygous" } ] } @@ -24064,16 +24242,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000003.12:37020548:T:C", - "display": "NC_000003.12:37020548:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "89615" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000106073.2" + "code": "NC_000002.12:47790890:A:G", + "display": "NC_000002.12:47790890:A:G" } ] } @@ -24089,7 +24259,7 @@ ] }, "valueQuantity": { - "value": 1.0, + "value": 0.5, "unit": "relative frequency of a particular allele in the specimen", "system": "http://unitsofmeasure.org", "code": "1" @@ -24105,7 +24275,7 @@ } ] }, - "valueString": "T" + "valueString": "A" }, { "code": { @@ -24117,7 +24287,7 @@ } ] }, - "valueString": "C" + "valueString": "G" }, { "code": { @@ -24151,9 +24321,25 @@ }, "valueRange": { "low": { - "value": 37020548 + "value": 47790890 } } + }, + { + "code": { + "coding": [ + { + "system": "http://loinc.org", + "code": "92821-8", + "display": "Population allele frequency" + } + ] + }, + "valueQuantity": { + "value": 0.0372618, + "system": "http://unitsofmeasure.org", + "code": "1" + } } ] } @@ -24162,7 +24348,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6395932091e78bf6afa", + "id": "dv-62fab6655932091e78c11631", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -24192,7 +24378,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-437c728d910a46189036896c9a3fe97f" + "reference": "Observation/dv-e7a8dac6a6aa45c5b219fea9973e34ab" } ], "component": [ @@ -24250,6 +24436,16 @@ "text": "reviewed by expert panel" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "89785" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000106257.2" + } ] } }, @@ -24257,7 +24453,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-437c728d910a46189036896c9a3fe97f", + "id": "dv-e7a8dac6a6aa45c5b219fea9973e34ab", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -24369,16 +24565,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000003.12:37042248:A:G", - "display": "NC_000003.12:37042248:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "36542" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000106295.2" + "code": "NC_000003.12:37037014:A:G", + "display": "NC_000003.12:37037014:A:G" } ] } @@ -24456,25 +24644,9 @@ }, "valueRange": { "low": { - "value": 37042248 + "value": 37037014 } } - }, - { - "code": { - "coding": [ - { - "system": "http://loinc.org", - "code": "92821-8", - "display": "Population allele frequency" - } - ] - }, - "valueQuantity": { - "value": 0.370828, - "system": "http://unitsofmeasure.org", - "code": "1" - } } ] } @@ -24483,7 +24655,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab66e5932091e78c176c8", + "id": "dv-62fab66e5932091e78c17717", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -24513,7 +24685,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-d675ed9e0e514a478542b503a5250ab3" + "reference": "Observation/dv-1692d4f52d4944a391a1e1e57347d8eb" } ], "component": [ @@ -24571,6 +24743,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "128422" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000902527.1" + } ] } }, @@ -24578,7 +24760,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-d675ed9e0e514a478542b503a5250ab3", + "id": "dv-1692d4f52d4944a391a1e1e57347d8eb", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -24670,8 +24852,8 @@ "coding": [ { "system": "http://loinc.org", - "code": "LA6705-3", - "display": "homozygous" + "code": "LA6706-1", + "display": "heterozygous" } ] } @@ -24690,16 +24872,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000002.12:21002408:C:T", - "display": "NC_000002.12:21002408:C:T" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "128418" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000902521.1" + "code": "NC_000002.12:21041027:G:A", + "display": "NC_000002.12:21041027:G:A" } ] } @@ -24715,7 +24889,7 @@ ] }, "valueQuantity": { - "value": 1.0, + "value": 0.5, "unit": "relative frequency of a particular allele in the specimen", "system": "http://unitsofmeasure.org", "code": "1" @@ -24731,7 +24905,7 @@ } ] }, - "valueString": "C" + "valueString": "G" }, { "code": { @@ -24743,7 +24917,7 @@ } ] }, - "valueString": "T" + "valueString": "A" }, { "code": { @@ -24777,7 +24951,7 @@ }, "valueRange": { "low": { - "value": 21002408 + "value": 21041027 } } }, @@ -24792,7 +24966,7 @@ ] }, "valueQuantity": { - "value": 0.704884, + "value": 0.25802, "system": "http://unitsofmeasure.org", "code": "1" } @@ -24804,7 +24978,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab63a5932091e78bf71dc", + "id": "dv-62fab6705932091e78c186e7", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -24834,7 +25008,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-38f8d84905ff4a5e9547b1e339f3ce02" + "reference": "Observation/dv-c05bb5adae894ebc865a6808c7685992" } ], "component": [ @@ -24872,8 +25046,8 @@ "coding": [ { "system": "https://www.ncbi.nlm.nih.gov/medgen", - "code": "C4552100", - "display": "Lynch syndrome" + "code": "C0677776", + "display": "Hereditary breast ovarian cancer syndrome" } ] } @@ -24889,9 +25063,19 @@ ] }, "valueCodeableConcept": { - "text": "reviewed by expert panel" + "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "133738" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001000149.4" + } ] } }, @@ -24899,7 +25083,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-38f8d84905ff4a5e9547b1e339f3ce02", + "id": "dv-c05bb5adae894ebc865a6808c7685992", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -24972,7 +25156,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000007.14" + "code": "NC_000013.11" } ] } @@ -25011,16 +25195,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000007.14:5987356:G:A", - "display": "NC_000007.14:5987356:G:A" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "36685" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000108294.2" + "code": "NC_000013.11:32355249:T:C", + "display": "NC_000013.11:32355249:T:C" } ] } @@ -25052,7 +25228,7 @@ } ] }, - "valueString": "G" + "valueString": "T" }, { "code": { @@ -25064,7 +25240,7 @@ } ] }, - "valueString": "A" + "valueString": "C" }, { "code": { @@ -25098,7 +25274,7 @@ }, "valueRange": { "low": { - "value": 5987356 + "value": 32355249 } } }, @@ -25113,7 +25289,7 @@ ] }, "valueQuantity": { - "value": 0.387786, + "value": 0.994876, "system": "http://unitsofmeasure.org", "code": "1" } @@ -25125,7 +25301,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab68a5932091e78c28ebb", + "id": "dv-62fab6645932091e78c111bb", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -25155,7 +25331,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-f2d0de4c461c487fa0d7b2b0a9034361" + "reference": "Observation/dv-37cd8d0c069d43cca4761374a718b6e8" } ], "component": [ @@ -25193,8 +25369,8 @@ "coding": [ { "system": "https://www.ncbi.nlm.nih.gov/medgen", - "code": "C0020445", - "display": "Familial hypercholesterolemia" + "code": "C4552100", + "display": "Lynch syndrome" } ] } @@ -25210,9 +25386,19 @@ ] }, "valueCodeableConcept": { - "text": "no assertion criteria provided" + "text": "reviewed by expert panel" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "89543" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000108232.2" + } ] } }, @@ -25220,7 +25406,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-f2d0de4c461c487fa0d7b2b0a9034361", + "id": "dv-37cd8d0c069d43cca4761374a718b6e8", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -25293,7 +25479,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000019.10" + "code": "NC_000002.12" } ] } @@ -25332,16 +25518,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000019.10:11113588:A:G", - "display": "NC_000019.10:11113588:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "200916" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001460277.1" + "code": "NC_000002.12:47798554:C:T", + "display": "NC_000002.12:47798554:C:T" } ] } @@ -25373,7 +25551,7 @@ } ] }, - "valueString": "A" + "valueString": "C" }, { "code": { @@ -25385,7 +25563,7 @@ } ] }, - "valueString": "G" + "valueString": "T" }, { "code": { @@ -25419,25 +25597,9 @@ }, "valueRange": { "low": { - "value": 11113588 + "value": 47798554 } } - }, - { - "code": { - "coding": [ - { - "system": "http://loinc.org", - "code": "92821-8", - "display": "Population allele frequency" - } - ] - }, - "valueQuantity": { - "value": 0.632026, - "system": "http://unitsofmeasure.org", - "code": "1" - } } ] } @@ -25446,7 +25608,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6395932091e78bf6bfe", + "id": "dv-62fab6905932091e78c2c798", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -25476,7 +25638,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-210349083123421e9899d9f21af3ef71" + "reference": "Observation/dv-e28737e34fd843fbbe1717b56b96d1f8" } ], "component": [ @@ -25534,6 +25696,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "218461" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000257705.2" + } ] } }, @@ -25541,7 +25713,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-210349083123421e9899d9f21af3ef71", + "id": "dv-e28737e34fd843fbbe1717b56b96d1f8", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -25614,7 +25786,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000002.12" + "code": "NC_000007.14" } ] } @@ -25633,8 +25805,8 @@ "coding": [ { "system": "http://loinc.org", - "code": "LA6706-1", - "display": "heterozygous" + "code": "LA6705-3", + "display": "homozygous" } ] } @@ -25653,16 +25825,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000002.12:47429661:G:A", - "display": "NC_000002.12:47429661:G:A" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "36564" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000052904.2" + "code": "NC_000007.14:5997426:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA", + "display": "NC_000007.14:5997426:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA" } ] } @@ -25678,7 +25842,7 @@ ] }, "valueQuantity": { - "value": 0.5, + "value": 1.0, "unit": "relative frequency of a particular allele in the specimen", "system": "http://unitsofmeasure.org", "code": "1" @@ -25694,7 +25858,7 @@ } ] }, - "valueString": "G" + "valueString": "GA" }, { "code": { @@ -25706,7 +25870,7 @@ } ] }, - "valueString": "A" + "valueString": "G" }, { "code": { @@ -25740,9 +25904,25 @@ }, "valueRange": { "low": { - "value": 47429661 + "value": 5997425 } } + }, + { + "code": { + "coding": [ + { + "system": "http://loinc.org", + "code": "92821-8", + "display": "Population allele frequency" + } + ] + }, + "valueQuantity": { + "value": 0.430816, + "system": "http://unitsofmeasure.org", + "code": "1" + } } ] } @@ -25751,7 +25931,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6a85932091e78c3bb46", + "id": "dv-62fab7095932091e78c75e4d", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -25781,7 +25961,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-6f1550b878b740c29dae310d745dbc76" + "reference": "Observation/dv-f2bfcff0b23a4c15a74aaeaef5faec4f" } ], "component": [ @@ -25839,6 +26019,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "1168905" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV002053227.1" + } ] } }, @@ -25846,7 +26036,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-6f1550b878b740c29dae310d745dbc76", + "id": "dv-f2bfcff0b23a4c15a74aaeaef5faec4f", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -25919,7 +26109,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000019.10" + "code": "NC_000002.12" } ] } @@ -25958,16 +26148,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000019.10:11131630:G:C", - "display": "NC_000019.10:11131630:G:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "328058" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001717063.2" + "code": "NC_000002.12:21009930:T:C", + "display": "NC_000002.12:21009930:T:C" } ] } @@ -25999,7 +26181,7 @@ } ] }, - "valueString": "G" + "valueString": "T" }, { "code": { @@ -26045,7 +26227,7 @@ }, "valueRange": { "low": { - "value": 11131630 + "value": 21009930 } } }, @@ -26060,7 +26242,7 @@ ] }, "valueQuantity": { - "value": 0.818994, + "value": 0.995763, "system": "http://unitsofmeasure.org", "code": "1" } @@ -26072,7 +26254,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab66e5932091e78c17733", + "id": "dv-62fab6655932091e78c1145b", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -26102,7 +26284,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-b96b0bdcbc3a4a68913378136736b773" + "reference": "Observation/dv-0c3e9547181e4b789c13b04121a9ced8" } ], "component": [ @@ -26140,8 +26322,8 @@ "coding": [ { "system": "https://www.ncbi.nlm.nih.gov/medgen", - "code": "C0020445", - "display": "Familial hypercholesterolemia" + "code": "C4552100", + "display": "Lynch syndrome" } ] } @@ -26157,9 +26339,19 @@ ] }, "valueCodeableConcept": { - "text": "criteria provided, single submitter" + "text": "reviewed by expert panel" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "89611" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000106069.2" + } ] } }, @@ -26167,7 +26359,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-b96b0bdcbc3a4a68913378136736b773", + "id": "dv-0c3e9547181e4b789c13b04121a9ced8", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -26240,7 +26432,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000002.12" + "code": "NC_000003.12" } ] } @@ -26259,8 +26451,8 @@ "coding": [ { "system": "http://loinc.org", - "code": "LA6706-1", - "display": "heterozygous" + "code": "LA6705-3", + "display": "homozygous" } ] } @@ -26279,16 +26471,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000002.12:21009322:G:A", - "display": "NC_000002.12:21009322:G:A" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "128425" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000902523.1" + "code": "NC_000003.12:37021467:G:T", + "display": "NC_000003.12:37021467:G:T" } ] } @@ -26304,7 +26488,7 @@ ] }, "valueQuantity": { - "value": 0.5, + "value": 1.0, "unit": "relative frequency of a particular allele in the specimen", "system": "http://unitsofmeasure.org", "code": "1" @@ -26332,7 +26516,7 @@ } ] }, - "valueString": "A" + "valueString": "T" }, { "code": { @@ -26366,25 +26550,9 @@ }, "valueRange": { "low": { - "value": 21009322 + "value": 37021467 } } - }, - { - "code": { - "coding": [ - { - "system": "http://loinc.org", - "code": "92821-8", - "display": "Population allele frequency" - } - ] - }, - "valueQuantity": { - "value": 0.388555, - "system": "http://unitsofmeasure.org", - "code": "1" - } } ] } @@ -26393,7 +26561,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab69e5932091e78c3549c", + "id": "dv-62fab6645932091e78c10b9a", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -26423,7 +26591,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-37304b7e844c41258d4a25a6dffada5b" + "reference": "Observation/dv-d83d284e564e4106a409fcd7bb222eb9" } ], "component": [ @@ -26461,8 +26629,8 @@ "coding": [ { "system": "https://www.ncbi.nlm.nih.gov/medgen", - "code": "C0020445", - "display": "Familial hypercholesterolemia" + "code": "C4552100", + "display": "Lynch syndrome" } ] } @@ -26478,9 +26646,19 @@ ] }, "valueCodeableConcept": { - "text": "no assertion criteria provided" + "text": "reviewed by expert panel" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "89296" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000107958.2" + } ] } }, @@ -26488,7 +26666,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-37304b7e844c41258d4a25a6dffada5b", + "id": "dv-d83d284e564e4106a409fcd7bb222eb9", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -26561,7 +26739,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000019.10" + "code": "NC_000002.12" } ] } @@ -26580,8 +26758,8 @@ "coding": [ { "system": "http://loinc.org", - "code": "LA6705-3", - "display": "homozygous" + "code": "LA6706-1", + "display": "heterozygous" } ] } @@ -26600,16 +26778,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000019.10:11123264:A:G", - "display": "NC_000019.10:11123264:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "252262" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001461329.1" + "code": "NC_000002.12:47785959:A:G", + "display": "NC_000002.12:47785959:A:G" } ] } @@ -26625,7 +26795,7 @@ ] }, "valueQuantity": { - "value": 1.0, + "value": 0.5, "unit": "relative frequency of a particular allele in the specimen", "system": "http://unitsofmeasure.org", "code": "1" @@ -26687,25 +26857,9 @@ }, "valueRange": { "low": { - "value": 11123264 + "value": 47785959 } } - }, - { - "code": { - "coding": [ - { - "system": "http://loinc.org", - "code": "92821-8", - "display": "Population allele frequency" - } - ] - }, - "valueQuantity": { - "value": 0.781146, - "system": "http://unitsofmeasure.org", - "code": "1" - } } ] } @@ -26714,7 +26868,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6655932091e78c11c6a", + "id": "dv-62fab63a5932091e78bf6fdb", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -26744,7 +26898,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-fcf9e127dc524dbab17c34123fd5aaf0" + "reference": "Observation/dv-aab391f842a14a79865639fc25b95ff9" } ], "component": [ @@ -26799,9 +26953,19 @@ ] }, "valueCodeableConcept": { - "text": "reviewed by expert panel" + "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "36597" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000052942.2" + } ] } }, @@ -26809,7 +26973,7 @@ "name": "variant", "resource": { "resourceType": "Observation", - "id": "dv-fcf9e127dc524dbab17c34123fd5aaf0", + "id": "dv-aab391f842a14a79865639fc25b95ff9", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" @@ -26882,7 +27046,7 @@ "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", - "code": "NC_000003.12" + "code": "NC_000002.12" } ] } @@ -26901,8 +27065,8 @@ "coding": [ { "system": "http://loinc.org", - "code": "LA6705-3", - "display": "homozygous" + "code": "LA6706-1", + "display": "heterozygous" } ] } @@ -26921,16 +27085,8 @@ "coding": [ { "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", - "code": "NC_000003.12:37007141:A:G", - "display": "NC_000003.12:37007141:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "90227" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000106721.2" + "code": "NC_000002.12:47795975:T:C", + "display": "NC_000002.12:47795975:T:C" } ] } @@ -26946,7 +27102,7 @@ ] }, "valueQuantity": { - "value": 1.0, + "value": 0.5, "unit": "relative frequency of a particular allele in the specimen", "system": "http://unitsofmeasure.org", "code": "1" @@ -26962,7 +27118,7 @@ } ] }, - "valueString": "A" + "valueString": "T" }, { "code": { @@ -26974,7 +27130,7 @@ } ] }, - "valueString": "G" + "valueString": "C" }, { "code": { @@ -27008,9 +27164,25 @@ }, "valueRange": { "low": { - "value": 37007141 + "value": 47795975 } } + }, + { + "code": { + "coding": [ + { + "system": "http://loinc.org", + "code": "92821-8", + "display": "Population allele frequency" + } + ] + }, + "valueQuantity": { + "value": 0.212977, + "system": "http://unitsofmeasure.org", + "code": "1" + } } ] } diff --git a/tests/expected_outputs/find_subject_dx_implications/4.json b/tests/expected_outputs/find_subject_dx_implications/4.json index 61125ca2..d82535db 100644 --- a/tests/expected_outputs/find_subject_dx_implications/4.json +++ b/tests/expected_outputs/find_subject_dx_implications/4.json @@ -5,7 +5,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6305932091e78bf2317", + "id": "dv-62fab6305932091e78bf2316", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -90,9 +90,19 @@ ] }, "valueCodeableConcept": { - "text": "criteria provided, single submitter" + "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "10" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000245789.1" + } ] } }, @@ -214,14 +224,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000006.11:26091178:C:G", "display": "NC_000006.11:26091178:C:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "10" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001368348.2" } ] } @@ -326,7 +328,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6305932091e78bf2326", + "id": "dv-62fab6305932091e78bf232f", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -411,9 +413,19 @@ ] }, "valueCodeableConcept": { - "text": "criteria provided, single submitter" + "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "10" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000020169.4" + } ] } }, @@ -535,14 +547,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000006.11:26091178:C:G", "display": "NC_000006.11:26091178:C:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "10" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001519563.1" } ] } @@ -647,7 +651,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6305932091e78bf231b", + "id": "dv-62fab6305932091e78bf2330", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -735,6 +739,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "10" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000206973.2" + } ] } }, @@ -856,14 +870,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000006.11:26091178:C:G", "display": "NC_000006.11:26091178:C:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "10" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000693430.2" } ] } @@ -968,7 +974,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6305932091e78bf2316", + "id": "dv-62fab6305932091e78bf231b", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -1053,9 +1059,19 @@ ] }, "valueCodeableConcept": { - "text": "no assertion criteria provided" + "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "10" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000693430.2" + } ] } }, @@ -1177,14 +1193,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000006.11:26091178:C:G", "display": "NC_000006.11:26091178:C:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "10" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000245789.1" } ] } @@ -1289,7 +1297,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6305932091e78bf232f", + "id": "dv-62fab6305932091e78bf2326", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -1374,9 +1382,19 @@ ] }, "valueCodeableConcept": { - "text": "no assertion criteria provided" + "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "10" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001519563.1" + } ] } }, @@ -1498,14 +1516,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000006.11:26091178:C:G", "display": "NC_000006.11:26091178:C:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "10" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000020169.4" } ] } @@ -1610,7 +1620,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6305932091e78bf2330", + "id": "dv-62fab6305932091e78bf2317", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -1698,6 +1708,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "10" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001368348.2" + } ] } }, @@ -1819,14 +1839,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000006.11:26091178:C:G", "display": "NC_000006.11:26091178:C:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "10" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000206973.2" } ] } @@ -1931,7 +1943,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6305932091e78bf232b", + "id": "dv-62fab6305932091e78bf2312", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -2019,6 +2031,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "10" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV002499222.1" + } ] } }, @@ -2140,14 +2162,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000006.11:26091178:C:G", "display": "NC_000006.11:26091178:C:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "10" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001523197.1" } ] } @@ -2252,7 +2266,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6305932091e78bf231e", + "id": "dv-62fab6305932091e78bf230d", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -2321,7 +2335,7 @@ { "system": "https://www.ncbi.nlm.nih.gov/medgen", "code": "C3469186", - "display": "Hemochromatosis t" + "display": "Hemochromatosis type 1" } ] } @@ -2340,6 +2354,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "10" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV002038504.1" + } ] } }, @@ -2461,14 +2485,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000006.11:26091178:C:G", "display": "NC_000006.11:26091178:C:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "10" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000893709.1" } ] } @@ -2573,7 +2589,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6305932091e78bf2322", + "id": "dv-62fab6305932091e78bf2329", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -2661,6 +2677,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "10" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001251532.1" + } ] } }, @@ -2782,14 +2808,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000006.11:26091178:C:G", "display": "NC_000006.11:26091178:C:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "10" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001194094.2" } ] } @@ -2894,7 +2912,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6305932091e78bf230e", + "id": "dv-62fab6305932091e78bf232c", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -2982,6 +3000,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "10" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000223933.2" + } ] } }, @@ -3103,14 +3131,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000006.11:26091178:C:G", "display": "NC_000006.11:26091178:C:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "10" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001137061.1" } ] } @@ -3215,7 +3235,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6305932091e78bf232c", + "id": "dv-62fab6305932091e78bf231f", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -3303,6 +3323,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "10" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV002028310.1" + } ] } }, @@ -3424,14 +3454,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000006.11:26091178:C:G", "display": "NC_000006.11:26091178:C:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "10" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000223933.2" } ] } @@ -3536,7 +3558,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6305932091e78bf231f", + "id": "dv-62fab6305932091e78bf2322", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -3624,6 +3646,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "10" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001194094.2" + } ] } }, @@ -3745,14 +3777,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000006.11:26091178:C:G", "display": "NC_000006.11:26091178:C:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "10" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV002028310.1" } ] } @@ -3857,7 +3881,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6305932091e78bf2329", + "id": "dv-62fab6305932091e78bf230e", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -3945,6 +3969,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "10" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001137061.1" + } ] } }, @@ -4066,14 +4100,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000006.11:26091178:C:G", "display": "NC_000006.11:26091178:C:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "10" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001251532.1" } ] } @@ -4178,7 +4204,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6305932091e78bf2312", + "id": "dv-62fab6305932091e78bf231e", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -4247,7 +4273,7 @@ { "system": "https://www.ncbi.nlm.nih.gov/medgen", "code": "C3469186", - "display": "Hemochromatosis type 1" + "display": "Hemochromatosis t" } ] } @@ -4266,6 +4292,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "10" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000893709.1" + } ] } }, @@ -4387,14 +4423,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000006.11:26091178:C:G", "display": "NC_000006.11:26091178:C:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "10" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV002499222.1" } ] } @@ -4499,7 +4527,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-62fab6305932091e78bf230d", + "id": "dv-62fab6305932091e78bf232b", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" @@ -4587,6 +4615,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "10" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001523197.1" + } ] } }, @@ -4708,14 +4746,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000006.11:26091178:C:G", "display": "NC_000006.11:26091178:C:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "10" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV002038504.1" } ] } diff --git a/tests/expected_outputs/find_subject_dx_implications/5.json b/tests/expected_outputs/find_subject_dx_implications/5.json index db770cbe..6e6ece7a 100644 --- a/tests/expected_outputs/find_subject_dx_implications/5.json +++ b/tests/expected_outputs/find_subject_dx_implications/5.json @@ -93,6 +93,16 @@ "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "126022" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000146298.1" + } ] } }, @@ -214,14 +224,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32912298:T:C", "display": "NC_000013.10:32912298:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "126022" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000146298.1" } ] } @@ -414,6 +416,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "126022" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000202285.7" + } ] } }, @@ -535,14 +547,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32912298:T:C", "display": "NC_000013.10:32912298:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "126022" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000202285.7" } ] } @@ -735,6 +739,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "126022" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001000460.4" + } ] } }, @@ -856,14 +870,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32912298:T:C", "display": "NC_000013.10:32912298:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "126022" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001000460.4" } ] } @@ -1056,6 +1062,16 @@ "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "126022" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001551831.1" + } ] } }, @@ -1177,14 +1193,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32912298:T:C", "display": "NC_000013.10:32912298:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "126022" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001551831.1" } ] } @@ -1377,6 +1385,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "126022" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000693636.1" + } ] } }, @@ -1498,14 +1516,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32912298:T:C", "display": "NC_000013.10:32912298:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "126022" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000693636.1" } ] } @@ -1698,6 +1708,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "126022" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000744444.1" + } ] } }, @@ -1819,14 +1839,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32912298:T:C", "display": "NC_000013.10:32912298:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "126022" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000744444.1" } ] } @@ -2019,6 +2031,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "126022" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000185213.5" + } ] } }, @@ -2140,14 +2162,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32912298:T:C", "display": "NC_000013.10:32912298:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "126022" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000185213.5" } ] } @@ -2340,6 +2354,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "126022" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000743289.1" + } ] } }, @@ -2461,14 +2485,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32912298:T:C", "display": "NC_000013.10:32912298:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "126022" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000743289.1" } ] } @@ -2661,6 +2677,16 @@ "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "126022" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000778666.1" + } ] } }, @@ -2782,14 +2808,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32912298:T:C", "display": "NC_000013.10:32912298:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "126022" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000778666.1" } ] } @@ -2982,6 +3000,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "126022" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000301763.1" + } ] } }, @@ -3103,14 +3131,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32912298:T:C", "display": "NC_000013.10:32912298:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "126022" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000301763.1" } ] } @@ -3303,6 +3323,16 @@ "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "126022" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000733249.1" + } ] } }, @@ -3424,14 +3454,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32912298:T:C", "display": "NC_000013.10:32912298:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "126022" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000733249.1" } ] } @@ -3624,6 +3646,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "126022" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000195977.1" + } ] } }, @@ -3745,14 +3777,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32912298:T:C", "display": "NC_000013.10:32912298:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "126022" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000195977.1" } ] } @@ -3945,6 +3969,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "126022" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000602744.6" + } ] } }, @@ -4066,14 +4100,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32912298:T:C", "display": "NC_000013.10:32912298:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "126022" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000602744.6" } ] } @@ -4266,6 +4292,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "126022" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV002533822.1" + } ] } }, @@ -4387,14 +4423,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32912298:T:C", "display": "NC_000013.10:32912298:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "126022" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV002533822.1" } ] } @@ -4587,6 +4615,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "126022" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000494320.1" + } ] } }, @@ -4708,14 +4746,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32912298:T:C", "display": "NC_000013.10:32912298:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "126022" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000494320.1" } ] } @@ -4908,6 +4938,16 @@ "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "126022" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001953719.1" + } ] } }, @@ -5029,14 +5069,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32912298:T:C", "display": "NC_000013.10:32912298:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "126022" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001953719.1" } ] } @@ -5229,6 +5261,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "126022" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000154051.1" + } ] } }, @@ -5350,14 +5392,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32912298:T:C", "display": "NC_000013.10:32912298:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "126022" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000154051.1" } ] } @@ -5550,6 +5584,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "126022" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000541022.1" + } ] } }, @@ -5671,14 +5715,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32912298:T:C", "display": "NC_000013.10:32912298:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "126022" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000541022.1" } ] } @@ -5871,6 +5907,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "126022" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000538459.1" + } ] } }, @@ -5992,14 +6038,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32912298:T:C", "display": "NC_000013.10:32912298:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "126022" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000538459.1" } ] } @@ -6192,6 +6230,16 @@ "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "126022" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001906228.1" + } ] } }, @@ -6313,14 +6361,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32912298:T:C", "display": "NC_000013.10:32912298:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "126022" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001906228.1" } ] } @@ -6513,6 +6553,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "126022" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000586945.1" + } ] } }, @@ -6634,14 +6684,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32912298:T:C", "display": "NC_000013.10:32912298:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "126022" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000586945.1" } ] } @@ -6834,6 +6876,16 @@ "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "126022" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000189304.1" + } ] } }, @@ -6955,14 +7007,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32912298:T:C", "display": "NC_000013.10:32912298:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "126022" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000189304.1" } ] } @@ -7155,6 +7199,16 @@ "text": "reviewed by expert panel" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "126022" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000245028.1" + } ] } }, @@ -7276,14 +7330,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32912298:T:C", "display": "NC_000013.10:32912298:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "126022" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000245028.1" } ] } @@ -7476,6 +7522,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "126022" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000537340.1" + } ] } }, @@ -7597,14 +7653,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32912298:T:C", "display": "NC_000013.10:32912298:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "126022" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000537340.1" } ] } @@ -7797,6 +7845,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "126022" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000383688.3" + } ] } }, @@ -7918,14 +7976,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32912298:T:C", "display": "NC_000013.10:32912298:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "126022" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000383688.3" } ] } @@ -8118,6 +8168,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "126022" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV002026093.2" + } ] } }, @@ -8239,14 +8299,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32912298:T:C", "display": "NC_000013.10:32912298:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "126022" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV002026093.2" } ] } @@ -8439,6 +8491,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "126022" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000383687.3" + } ] } }, @@ -8560,14 +8622,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32912298:T:C", "display": "NC_000013.10:32912298:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "126022" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000383687.3" } ] } @@ -8760,6 +8814,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132779" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000383699.3" + } ] } }, @@ -8881,14 +8945,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32913054:A:G", "display": "NC_000013.10:32913054:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132779" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000383699.3" } ] } @@ -9081,6 +9137,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132779" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000743299.1" + } ] } }, @@ -9202,14 +9268,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32913054:A:G", "display": "NC_000013.10:32913054:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132779" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000743299.1" } ] } @@ -9402,6 +9460,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132779" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000383698.3" + } ] } }, @@ -9523,14 +9591,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32913054:A:G", "display": "NC_000013.10:32913054:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132779" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000383698.3" } ] } @@ -9723,6 +9783,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132779" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000537315.1" + } ] } }, @@ -9844,14 +9914,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32913054:A:G", "display": "NC_000013.10:32913054:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132779" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000537315.1" } ] } @@ -10044,6 +10106,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132779" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000693637.1" + } ] } }, @@ -10165,14 +10237,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32913054:A:G", "display": "NC_000013.10:32913054:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132779" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000693637.1" } ] } @@ -10365,6 +10429,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132779" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000154035.1" + } ] } }, @@ -10486,14 +10560,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32913054:A:G", "display": "NC_000013.10:32913054:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132779" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000154035.1" } ] } @@ -10686,6 +10752,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132779" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000301764.1" + } ] } }, @@ -10807,14 +10883,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32913054:A:G", "display": "NC_000013.10:32913054:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132779" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000301764.1" } ] } @@ -11007,6 +11075,16 @@ "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132779" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001905911.1" + } ] } }, @@ -11128,14 +11206,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32913054:A:G", "display": "NC_000013.10:32913054:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132779" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001905911.1" } ] } @@ -11328,6 +11398,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132779" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000602737.6" + } ] } }, @@ -11449,14 +11529,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32913054:A:G", "display": "NC_000013.10:32913054:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132779" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000602737.6" } ] } @@ -11649,6 +11721,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132779" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV002026104.2" + } ] } }, @@ -11770,14 +11852,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32913054:A:G", "display": "NC_000013.10:32913054:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132779" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV002026104.2" } ] } @@ -11970,6 +12044,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132779" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000202287.7" + } ] } }, @@ -12091,14 +12175,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32913054:A:G", "display": "NC_000013.10:32913054:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132779" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000202287.7" } ] } @@ -12291,6 +12367,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132779" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV002097617.1" + } ] } }, @@ -12412,14 +12498,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32913054:A:G", "display": "NC_000013.10:32913054:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132779" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV002097617.1" } ] } @@ -12612,6 +12690,16 @@ "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132779" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000778675.1" + } ] } }, @@ -12733,14 +12821,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32913054:A:G", "display": "NC_000013.10:32913054:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132779" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000778675.1" } ] } @@ -12933,6 +13013,16 @@ "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132779" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001951903.1" + } ] } }, @@ -13054,14 +13144,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32913054:A:G", "display": "NC_000013.10:32913054:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132779" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001951903.1" } ] } @@ -13254,6 +13336,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132779" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000187248.5" + } ] } }, @@ -13375,14 +13467,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32913054:A:G", "display": "NC_000013.10:32913054:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132779" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000187248.5" } ] } @@ -13575,6 +13659,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132779" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000541017.1" + } ] } }, @@ -13696,14 +13790,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32913054:A:G", "display": "NC_000013.10:32913054:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132779" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000541017.1" } ] } @@ -13896,6 +13982,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132779" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000494326.1" + } ] } }, @@ -14017,14 +14113,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32913054:A:G", "display": "NC_000013.10:32913054:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132779" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000494326.1" } ] } @@ -14217,6 +14305,16 @@ "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132779" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000591909.2" + } ] } }, @@ -14338,14 +14436,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32913054:A:G", "display": "NC_000013.10:32913054:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132779" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000591909.2" } ] } @@ -14538,6 +14628,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132779" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000586951.1" + } ] } }, @@ -14659,14 +14759,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32913054:A:G", "display": "NC_000013.10:32913054:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132779" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000586951.1" } ] } @@ -14859,6 +14951,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132779" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000195985.1" + } ] } }, @@ -14980,14 +15082,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32913054:A:G", "display": "NC_000013.10:32913054:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132779" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000195985.1" } ] } @@ -15180,6 +15274,16 @@ "text": "reviewed by expert panel" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132779" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000245032.1" + } ] } }, @@ -15301,14 +15405,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32913054:A:G", "display": "NC_000013.10:32913054:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132779" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000245032.1" } ] } @@ -15501,6 +15597,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132779" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000635377.5" + } ] } }, @@ -15622,14 +15728,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32913054:A:G", "display": "NC_000013.10:32913054:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132779" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000635377.5" } ] } @@ -15822,6 +15920,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132779" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000167365.11" + } ] } }, @@ -15943,14 +16051,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32913054:A:G", "display": "NC_000013.10:32913054:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132779" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000167365.11" } ] } @@ -16143,6 +16243,16 @@ "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132779" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000733258.1" + } ] } }, @@ -16264,14 +16374,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32913054:A:G", "display": "NC_000013.10:32913054:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132779" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000733258.1" } ] } @@ -16464,6 +16566,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132779" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000268809.3" + } ] } }, @@ -16585,14 +16697,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32913054:A:G", "display": "NC_000013.10:32913054:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132779" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000268809.3" } ] } @@ -16785,6 +16889,16 @@ "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132780" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000733283.1" + } ] } }, @@ -16906,14 +17020,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32915004:G:C", "display": "NC_000013.10:32915004:G:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132780" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000733283.1" } ] } @@ -17106,6 +17212,16 @@ "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132780" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001958810.1" + } ] } }, @@ -17227,14 +17343,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32915004:G:C", "display": "NC_000013.10:32915004:G:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132780" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001958810.1" } ] } @@ -17427,6 +17535,16 @@ "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132780" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000778699.1" + } ] } }, @@ -17548,14 +17666,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32915004:G:C", "display": "NC_000013.10:32915004:G:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132780" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000778699.1" } ] } @@ -17748,6 +17858,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132780" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000743322.1" + } ] } }, @@ -17869,14 +17989,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32915004:G:C", "display": "NC_000013.10:32915004:G:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132780" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000743322.1" } ] } @@ -18069,6 +18181,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132780" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000383747.3" + } ] } }, @@ -18190,14 +18312,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32915004:G:C", "display": "NC_000013.10:32915004:G:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132780" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000383747.3" } ] } @@ -18390,6 +18504,16 @@ "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132780" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000592061.2" + } ] } }, @@ -18511,14 +18635,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32915004:G:C", "display": "NC_000013.10:32915004:G:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132780" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000592061.2" } ] } @@ -18711,6 +18827,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132780" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000212687.4" + } ] } }, @@ -18832,14 +18958,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32915004:G:C", "display": "NC_000013.10:32915004:G:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132780" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000212687.4" } ] } @@ -19032,6 +19150,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132780" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000605771.2" + } ] } }, @@ -19153,14 +19281,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32915004:G:C", "display": "NC_000013.10:32915004:G:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132780" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000605771.2" } ] } @@ -19353,6 +19473,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132780" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000537316.1" + } ] } }, @@ -19474,14 +19604,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32915004:G:C", "display": "NC_000013.10:32915004:G:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132780" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000537316.1" } ] } @@ -19674,6 +19796,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132780" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000154059.1" + } ] } }, @@ -19795,14 +19927,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32915004:G:C", "display": "NC_000013.10:32915004:G:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132780" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000154059.1" } ] } @@ -19995,6 +20119,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132780" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000494339.1" + } ] } }, @@ -20116,14 +20250,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32915004:G:C", "display": "NC_000013.10:32915004:G:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132780" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000494339.1" } ] } @@ -20316,6 +20442,16 @@ "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132780" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001906399.1" + } ] } }, @@ -20437,14 +20573,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32915004:G:C", "display": "NC_000013.10:32915004:G:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132780" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001906399.1" } ] } @@ -20637,6 +20765,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132780" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000541018.1" + } ] } }, @@ -20758,14 +20896,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32915004:G:C", "display": "NC_000013.10:32915004:G:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132780" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000541018.1" } ] } @@ -20958,6 +21088,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132780" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV002025800.2" + } ] } }, @@ -21079,14 +21219,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32915004:G:C", "display": "NC_000013.10:32915004:G:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132780" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV002025800.2" } ] } @@ -21279,6 +21411,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132780" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV002097618.1" + } ] } }, @@ -21400,14 +21542,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32915004:G:C", "display": "NC_000013.10:32915004:G:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132780" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV002097618.1" } ] } @@ -21600,6 +21734,16 @@ "text": "reviewed by expert panel" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132780" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000245036.1" + } ] } }, @@ -21721,14 +21865,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32915004:G:C", "display": "NC_000013.10:32915004:G:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132780" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000245036.1" } ] } @@ -21921,6 +22057,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132780" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000167382.11" + } ] } }, @@ -22042,14 +22188,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32915004:G:C", "display": "NC_000013.10:32915004:G:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132780" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000167382.11" } ] } @@ -22242,6 +22380,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132780" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000202293.7" + } ] } }, @@ -22363,14 +22511,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32915004:G:C", "display": "NC_000013.10:32915004:G:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132780" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000202293.7" } ] } @@ -22563,6 +22703,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132780" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV002536241.1" + } ] } }, @@ -22684,14 +22834,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32915004:G:C", "display": "NC_000013.10:32915004:G:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132780" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV002536241.1" } ] } @@ -22884,6 +23026,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132780" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000602743.6" + } ] } }, @@ -23005,14 +23157,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32915004:G:C", "display": "NC_000013.10:32915004:G:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132780" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000602743.6" } ] } @@ -23205,6 +23349,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132780" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000195998.1" + } ] } }, @@ -23326,14 +23480,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32915004:G:C", "display": "NC_000013.10:32915004:G:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132780" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000195998.1" } ] } @@ -23526,6 +23672,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132780" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000586969.1" + } ] } }, @@ -23647,14 +23803,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32915004:G:C", "display": "NC_000013.10:32915004:G:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132780" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000586969.1" } ] } @@ -23847,6 +23995,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132780" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000383746.3" + } ] } }, @@ -23968,14 +24126,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32915004:G:C", "display": "NC_000013.10:32915004:G:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132780" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000383746.3" } ] } @@ -24168,6 +24318,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132780" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000635514.5" + } ] } }, @@ -24289,14 +24449,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32915004:G:C", "display": "NC_000013.10:32915004:G:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132780" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000635514.5" } ] } @@ -24489,6 +24641,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132780" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000693639.1" + } ] } }, @@ -24610,14 +24772,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32915004:G:C", "display": "NC_000013.10:32915004:G:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132780" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000693639.1" } ] } @@ -24810,6 +24964,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "132780" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000301767.1" + } ] } }, @@ -24931,14 +25095,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32915004:G:C", "display": "NC_000013.10:32915004:G:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "132780" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000301767.1" } ] } @@ -25125,6 +25281,16 @@ "text": "no assertion provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "133738" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000084509.1" + } ] } }, @@ -25246,14 +25412,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32929386:T:C", "display": "NC_000013.10:32929386:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "133738" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000084509.1" } ] } @@ -25446,6 +25604,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "133738" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001139178.1" + } ] } }, @@ -25567,14 +25735,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32929386:T:C", "display": "NC_000013.10:32929386:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "133738" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001139178.1" } ] } @@ -25767,6 +25927,16 @@ "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "133738" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001930871.1" + } ] } }, @@ -25888,14 +26058,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32929386:T:C", "display": "NC_000013.10:32929386:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "133738" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001930871.1" } ] } @@ -26088,6 +26250,16 @@ "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "133738" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001550303.1" + } ] } }, @@ -26209,14 +26381,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32929386:T:C", "display": "NC_000013.10:32929386:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "133738" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001550303.1" } ] } @@ -26409,6 +26573,16 @@ "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "133738" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000258682.1" + } ] } }, @@ -26530,14 +26704,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32929386:T:C", "display": "NC_000013.10:32929386:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "133738" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000258682.1" } ] } @@ -26730,6 +26896,16 @@ "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "133738" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001906256.1" + } ] } }, @@ -26851,14 +27027,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32929386:T:C", "display": "NC_000013.10:32929386:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "133738" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001906256.1" } ] } @@ -27051,6 +27219,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "133738" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000202300.7" + } ] } }, @@ -27172,14 +27350,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32929386:T:C", "display": "NC_000013.10:32929386:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "133738" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000202300.7" } ] } @@ -27372,6 +27542,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "133738" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV002097591.1" + } ] } }, @@ -27493,14 +27673,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32929386:T:C", "display": "NC_000013.10:32929386:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "133738" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV002097591.1" } ] } @@ -27693,6 +27865,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "133738" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000602752.5" + } ] } }, @@ -27814,14 +27996,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32929386:T:C", "display": "NC_000013.10:32929386:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "133738" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000602752.5" } ] } @@ -28014,6 +28188,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "133738" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001000149.4" + } ] } }, @@ -28135,14 +28319,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32929386:T:C", "display": "NC_000013.10:32929386:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "133738" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001000149.4" } ] } @@ -28335,6 +28511,16 @@ "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "133738" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001979638.1" + } ] } }, @@ -28456,14 +28642,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32929386:T:C", "display": "NC_000013.10:32929386:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "133738" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001979638.1" } ] } @@ -28656,6 +28834,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "133738" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000268811.3" + } ] } }, @@ -28777,14 +28965,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32929386:T:C", "display": "NC_000013.10:32929386:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "133738" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000268811.3" } ] } @@ -28977,6 +29157,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "133738" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV002025816.2" + } ] } }, @@ -29098,14 +29288,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32929386:T:C", "display": "NC_000013.10:32929386:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "133738" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV002025816.2" } ] } @@ -29298,6 +29480,16 @@ "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "133738" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001744232.3" + } ] } }, @@ -29419,14 +29611,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32929386:T:C", "display": "NC_000013.10:32929386:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "133738" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001744232.3" } ] } @@ -29619,6 +29803,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "125927" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000383816.3" + } ] } }, @@ -29740,14 +29934,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32973011:A:C", "display": "NC_000013.10:32973011:A:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "125927" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000383816.3" } ] } @@ -29924,6 +30110,16 @@ "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "125927" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000145775.1" + } ] } }, @@ -30045,14 +30241,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32973011:A:C", "display": "NC_000013.10:32973011:A:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "125927" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000145775.1" } ] } @@ -30229,6 +30417,16 @@ "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "125927" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001906326.1" + } ] } }, @@ -30350,14 +30548,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32973011:A:C", "display": "NC_000013.10:32973011:A:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "125927" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001906326.1" } ] } @@ -30534,6 +30724,16 @@ "text": "reviewed by expert panel" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "125927" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000245315.1" + } ] } }, @@ -30655,14 +30855,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32973011:A:C", "display": "NC_000013.10:32973011:A:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "125927" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000245315.1" } ] } @@ -30839,6 +31031,16 @@ "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "125927" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001548650.1" + } ] } }, @@ -30960,14 +31162,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32973011:A:C", "display": "NC_000013.10:32973011:A:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "125927" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001548650.1" } ] } @@ -31144,6 +31338,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "125927" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000883471.4" + } ] } }, @@ -31265,14 +31469,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32973011:A:C", "display": "NC_000013.10:32973011:A:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "125927" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000883471.4" } ] } @@ -31449,6 +31645,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "125927" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000693649.1" + } ] } }, @@ -31570,14 +31776,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32973011:A:C", "display": "NC_000013.10:32973011:A:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "125927" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000693649.1" } ] } @@ -31754,6 +31952,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "125927" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000383815.3" + } ] } }, @@ -31875,14 +32083,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32973011:A:C", "display": "NC_000013.10:32973011:A:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "125927" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000383815.3" } ] } @@ -32059,6 +32259,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "125927" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000743532.1" + } ] } }, @@ -32180,14 +32390,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000013.10:32973011:A:C", "display": "NC_000013.10:32973011:A:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "125927" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000743532.1" } ] } @@ -32364,6 +32566,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "42942" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000170522.11" + } ] } }, @@ -32485,14 +32697,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000014.8:23892887:A:G", "display": "NC_000014.8:23892887:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "42942" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000170522.11" } ] } @@ -32685,6 +32889,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "42942" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000386097.3" + } ] } }, @@ -32806,14 +33020,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000014.8:23892887:A:G", "display": "NC_000014.8:23892887:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "42942" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000386097.3" } ] } @@ -33006,6 +33212,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "42942" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000151919.1" + } ] } }, @@ -33127,14 +33343,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000014.8:23892887:A:G", "display": "NC_000014.8:23892887:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "42942" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000151919.1" } ] } @@ -33327,6 +33535,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "42942" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000386099.3" + } ] } }, @@ -33448,14 +33666,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000014.8:23892887:A:G", "display": "NC_000014.8:23892887:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "42942" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000386099.3" } ] } @@ -33648,6 +33858,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "42942" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000386095.3" + } ] } }, @@ -33769,14 +33989,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000014.8:23892887:A:G", "display": "NC_000014.8:23892887:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "42942" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000386095.3" } ] } @@ -33969,6 +34181,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "42942" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000386098.3" + } ] } }, @@ -34090,14 +34312,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000014.8:23892887:A:G", "display": "NC_000014.8:23892887:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "42942" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000386098.3" } ] } @@ -34290,6 +34504,16 @@ "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "42942" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001551199.1" + } ] } }, @@ -34411,14 +34635,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000014.8:23892887:A:G", "display": "NC_000014.8:23892887:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "42942" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001551199.1" } ] } @@ -34611,6 +34827,16 @@ "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "42942" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001920413.1" + } ] } }, @@ -34732,14 +34958,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000014.8:23892887:A:G", "display": "NC_000014.8:23892887:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "42942" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001920413.1" } ] } @@ -34932,6 +35150,16 @@ "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "42942" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001930264.1" + } ] } }, @@ -35053,14 +35281,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000014.8:23892887:A:G", "display": "NC_000014.8:23892887:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "42942" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001930264.1" } ] } @@ -35253,6 +35473,16 @@ "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "42942" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001951128.1" + } ] } }, @@ -35374,14 +35604,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000014.8:23892887:A:G", "display": "NC_000014.8:23892887:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "42942" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001951128.1" } ] } @@ -35574,6 +35796,16 @@ "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "42942" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001975767.1" + } ] } }, @@ -35695,14 +35927,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000014.8:23892887:A:G", "display": "NC_000014.8:23892887:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "42942" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001975767.1" } ] } @@ -35895,6 +36119,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "42942" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000303219.1" + } ] } }, @@ -36016,14 +36250,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000014.8:23892887:A:G", "display": "NC_000014.8:23892887:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "42942" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000303219.1" } ] } @@ -36216,6 +36442,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "42942" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001433073.1" + } ] } }, @@ -36337,14 +36573,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000014.8:23892887:A:G", "display": "NC_000014.8:23892887:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "42942" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001433073.1" } ] } @@ -36537,6 +36765,16 @@ "text": "reviewed by expert panel" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "42942" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000564487.4" + } ] } }, @@ -36658,14 +36896,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000014.8:23892887:A:G", "display": "NC_000014.8:23892887:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "42942" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000564487.4" } ] } @@ -36858,6 +37088,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "42942" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000059486.5" + } ] } }, @@ -36979,14 +37219,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000014.8:23892887:A:G", "display": "NC_000014.8:23892887:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "42942" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000059486.5" } ] } @@ -37179,6 +37411,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "42942" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001000422.4" + } ] } }, @@ -37300,14 +37542,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000014.8:23892887:A:G", "display": "NC_000014.8:23892887:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "42942" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001000422.4" } ] } @@ -37500,6 +37734,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "42942" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000386100.2" + } ] } }, @@ -37621,14 +37865,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000014.8:23892887:A:G", "display": "NC_000014.8:23892887:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "42942" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000386100.2" } ] } @@ -37821,6 +38057,16 @@ "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "42942" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001742640.3" + } ] } }, @@ -37942,14 +38188,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000014.8:23892887:A:G", "display": "NC_000014.8:23892887:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "42942" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001742640.3" } ] } @@ -38142,6 +38380,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "42942" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000317659.5" + } ] } }, @@ -38263,14 +38511,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000014.8:23892887:A:G", "display": "NC_000014.8:23892887:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "42942" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000317659.5" } ] } @@ -38463,6 +38703,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "42942" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000902546.1" + } ] } }, @@ -38584,14 +38834,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000014.8:23892887:A:G", "display": "NC_000014.8:23892887:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "42942" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000902546.1" } ] } @@ -38784,6 +39026,16 @@ "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "14095" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001972763.1" + } ] } }, @@ -38905,14 +39157,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000014.8:23895022:G:A", "display": "NC_000014.8:23895022:G:A" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "14095" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001972763.1" } ] } @@ -39105,6 +39349,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "14095" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000212630.1" + } ] } }, @@ -39226,14 +39480,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000014.8:23895022:G:A", "display": "NC_000014.8:23895022:G:A" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "14095" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000212630.1" } ] } @@ -39426,6 +39672,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "14095" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000318794.5" + } ] } }, @@ -39547,14 +39803,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000014.8:23895022:G:A", "display": "NC_000014.8:23895022:G:A" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "14095" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000318794.5" } ] } @@ -39747,6 +39995,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "14095" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001249810.10" + } ] } }, @@ -39868,14 +40126,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000014.8:23895022:G:A", "display": "NC_000014.8:23895022:G:A" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "14095" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001249810.10" } ] } @@ -40068,6 +40318,16 @@ "text": "reviewed by expert panel" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "14095" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000564425.4" + } ] } }, @@ -40189,14 +40449,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000014.8:23895022:G:A", "display": "NC_000014.8:23895022:G:A" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "14095" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000564425.4" } ] } @@ -40389,6 +40641,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "14095" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV002538613.1" + } ] } }, @@ -40510,14 +40772,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000014.8:23895022:G:A", "display": "NC_000014.8:23895022:G:A" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "14095" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV002538613.1" } ] } @@ -40710,6 +40964,16 @@ "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "14095" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001739623.3" + } ] } }, @@ -40831,14 +41095,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000014.8:23895022:G:A", "display": "NC_000014.8:23895022:G:A" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "14095" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001739623.3" } ] } @@ -41031,6 +41287,16 @@ "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "14095" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000188798.1" + } ] } }, @@ -41152,14 +41418,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000014.8:23895022:G:A", "display": "NC_000014.8:23895022:G:A" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "14095" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000188798.1" } ] } @@ -41352,6 +41610,16 @@ "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "14095" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000280314.1" + } ] } }, @@ -41473,14 +41741,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000014.8:23895022:G:A", "display": "NC_000014.8:23895022:G:A" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "14095" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000280314.1" } ] } @@ -41673,6 +41933,16 @@ "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "14095" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV002017675.1" + } ] } }, @@ -41794,14 +42064,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000014.8:23895022:G:A", "display": "NC_000014.8:23895022:G:A" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "14095" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV002017675.1" } ] } @@ -41994,6 +42256,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "14095" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000546190.6" + } ] } }, @@ -42115,14 +42387,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000014.8:23895022:G:A", "display": "NC_000014.8:23895022:G:A" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "14095" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000546190.6" } ] } @@ -42315,6 +42579,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "14095" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001352585.2" + } ] } }, @@ -42436,14 +42710,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000014.8:23895022:G:A", "display": "NC_000014.8:23895022:G:A" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "14095" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001352585.2" } ] } @@ -42636,6 +42902,16 @@ "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "14095" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001959712.2" + } ] } }, @@ -42757,14 +43033,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000014.8:23895022:G:A", "display": "NC_000014.8:23895022:G:A" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "14095" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001959712.2" } ] } @@ -42957,6 +43225,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "14095" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000059423.7" + } ] } }, @@ -43078,14 +43356,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000014.8:23895022:G:A", "display": "NC_000014.8:23895022:G:A" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "14095" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000059423.7" } ] } @@ -43278,6 +43548,16 @@ "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "14095" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000035408.2" + } ] } }, @@ -43399,14 +43679,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000014.8:23895022:G:A", "display": "NC_000014.8:23895022:G:A" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "14095" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000035408.2" } ] } @@ -43599,6 +43871,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "14095" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000208451.14" + } ] } }, @@ -43720,14 +44002,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000014.8:23895022:G:A", "display": "NC_000014.8:23895022:G:A" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "14095" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000208451.14" } ] } @@ -43920,6 +44194,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "14095" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV002059672.1" + } ] } }, @@ -44041,14 +44325,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000014.8:23895022:G:A", "display": "NC_000014.8:23895022:G:A" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "14095" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV002059672.1" } ] } @@ -44241,6 +44517,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "3683" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000294463.2" + } ] } }, @@ -44362,14 +44648,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11210927:C:T", "display": "NC_000019.9:11210927:C:T" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "3683" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000294463.2" } ] } @@ -44562,6 +44840,16 @@ "text": "reviewed by expert panel" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "3683" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV002506409.1" + } ] } }, @@ -44683,14 +44971,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11210927:C:T", "display": "NC_000019.9:11210927:C:T" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "3683" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV002506409.1" } ] } @@ -44883,6 +45163,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "3683" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000588484.1" + } ] } }, @@ -45004,14 +45294,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11210927:C:T", "display": "NC_000019.9:11210927:C:T" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "3683" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000588484.1" } ] } @@ -45204,6 +45486,16 @@ "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "3683" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000606015.1" + } ] } }, @@ -45325,14 +45617,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11210927:C:T", "display": "NC_000019.9:11210927:C:T" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "3683" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000606015.1" } ] } @@ -45525,6 +45809,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "3683" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000987040.1" + } ] } }, @@ -45646,14 +45940,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11210927:C:T", "display": "NC_000019.9:11210927:C:T" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "3683" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000987040.1" } ] } @@ -45846,6 +46132,16 @@ "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "3683" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV002017112.1" + } ] } }, @@ -45967,14 +46263,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11210927:C:T", "display": "NC_000019.9:11210927:C:T" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "3683" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV002017112.1" } ] } @@ -46167,6 +46455,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "3683" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV002027963.1" + } ] } }, @@ -46288,14 +46586,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11210927:C:T", "display": "NC_000019.9:11210927:C:T" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "3683" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV002027963.1" } ] } @@ -46488,6 +46778,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "3683" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000503101.1" + } ] } }, @@ -46609,14 +46909,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11210927:C:T", "display": "NC_000019.9:11210927:C:T" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "3683" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000503101.1" } ] } @@ -46809,6 +47101,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "3683" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000544678.5" + } ] } }, @@ -46930,14 +47232,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11210927:C:T", "display": "NC_000019.9:11210927:C:T" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "3683" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000544678.5" } ] } @@ -47130,6 +47424,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "3683" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000583630.1" + } ] } }, @@ -47251,14 +47555,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11210927:C:T", "display": "NC_000019.9:11210927:C:T" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "3683" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000583630.1" } ] } @@ -47451,6 +47747,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "3683" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000607415.1" + } ] } }, @@ -47572,14 +47878,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11210927:C:T", "display": "NC_000019.9:11210927:C:T" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "3683" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000607415.1" } ] } @@ -47772,6 +48070,16 @@ "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "3683" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV002086359.1" + } ] } }, @@ -47893,14 +48201,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11210927:C:T", "display": "NC_000019.9:11210927:C:T" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "3683" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV002086359.1" } ] } @@ -48093,6 +48393,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "3683" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001653581.1" + } ] } }, @@ -48214,14 +48524,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11210927:C:T", "display": "NC_000019.9:11210927:C:T" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "3683" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001653581.1" } ] } @@ -48414,6 +48716,16 @@ "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "3683" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000925133.1" + } ] } }, @@ -48535,14 +48847,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11210927:C:T", "display": "NC_000019.9:11210927:C:T" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "3683" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000925133.1" } ] } @@ -48735,6 +49039,16 @@ "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "3683" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000024033.3" + } ] } }, @@ -48856,14 +49170,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11210927:C:T", "display": "NC_000019.9:11210927:C:T" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "3683" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000024033.3" } ] } @@ -49056,6 +49362,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "252262" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000295923.2" + } ] } }, @@ -49177,14 +49493,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11233940:A:G", "display": "NC_000019.9:11233940:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "252262" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000295923.2" } ] } @@ -49377,6 +49685,16 @@ "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "252262" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001461329.1" + } ] } }, @@ -49498,14 +49816,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11233940:A:G", "display": "NC_000019.9:11233940:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "252262" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001461329.1" } ] } @@ -49698,6 +50008,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "252262" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000524334.4" + } ] } }, @@ -49819,14 +50139,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11233940:A:G", "display": "NC_000019.9:11233940:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "252262" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000524334.4" } ] } @@ -50019,6 +50331,16 @@ "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "252262" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001740479.3" + } ] } }, @@ -50140,14 +50462,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11233940:A:G", "display": "NC_000019.9:11233940:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "252262" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001740479.3" } ] } @@ -50340,6 +50654,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "252262" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000689775.1" + } ] } }, @@ -50461,14 +50785,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11233940:A:G", "display": "NC_000019.9:11233940:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "252262" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000689775.1" } ] } @@ -50661,6 +50977,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "252262" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV002049746.2" + } ] } }, @@ -50782,14 +51108,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11233940:A:G", "display": "NC_000019.9:11233940:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "252262" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV002049746.2" } ] } @@ -50982,6 +51300,16 @@ "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "252262" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001926076.1" + } ] } }, @@ -51103,14 +51431,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11233940:A:G", "display": "NC_000019.9:11233940:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "252262" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001926076.1" } ] } @@ -51303,6 +51623,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "252262" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001717062.2" + } ] } }, @@ -51424,14 +51754,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11233940:A:G", "display": "NC_000019.9:11233940:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "252262" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001717062.2" } ] } @@ -51624,6 +51946,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "252262" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000410543.3" + } ] } }, @@ -51745,14 +52077,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11233940:A:G", "display": "NC_000019.9:11233940:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "252262" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000410543.3" } ] } @@ -51945,6 +52269,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "252262" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000304691.1" + } ] } }, @@ -52066,14 +52400,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11233940:A:G", "display": "NC_000019.9:11233940:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "252262" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000304691.1" } ] } @@ -52266,6 +52592,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "252262" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000711400.2" + } ] } }, @@ -52387,14 +52723,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11233940:A:G", "display": "NC_000019.9:11233940:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "252262" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000711400.2" } ] } @@ -52587,6 +52915,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "252262" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000987010.1" + } ] } }, @@ -52708,14 +53046,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11233940:A:G", "display": "NC_000019.9:11233940:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "252262" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000987010.1" } ] } @@ -52908,6 +53238,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "252262" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001738025.1" + } ] } }, @@ -53029,14 +53369,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11233940:A:G", "display": "NC_000019.9:11233940:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "252262" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001738025.1" } ] } @@ -53229,6 +53561,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "252262" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000323005.1" + } ] } }, @@ -53350,14 +53692,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11233940:A:G", "display": "NC_000019.9:11233940:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "252262" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000323005.1" } ] } @@ -53550,6 +53884,16 @@ "text": "no assertion criteria provided" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "252262" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000606617.1" + } ] } }, @@ -53671,14 +54015,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11233940:A:G", "display": "NC_000019.9:11233940:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "252262" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000606617.1" } ] } @@ -53871,6 +54207,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "265910" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000323020.1" + } ] } }, @@ -53992,14 +54338,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11242043:G:A", "display": "NC_000019.9:11242043:G:A" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "265910" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000323020.1" } ] } @@ -54192,6 +54530,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "265910" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001935715.1" + } ] } }, @@ -54313,14 +54661,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11242043:G:A", "display": "NC_000019.9:11242043:G:A" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "265910" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001935715.1" } ] } @@ -54513,6 +54853,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "265910" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001738049.1" + } ] } }, @@ -54634,14 +54984,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11242043:G:A", "display": "NC_000019.9:11242043:G:A" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "265910" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001738049.1" } ] } @@ -54834,6 +55176,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "265910" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000410546.3" + } ] } }, @@ -54955,14 +55307,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11242043:G:A", "display": "NC_000019.9:11242043:G:A" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "265910" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000410546.3" } ] } @@ -55155,6 +55499,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "265910" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000987011.1" + } ] } }, @@ -55276,14 +55630,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11242043:G:A", "display": "NC_000019.9:11242043:G:A" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "265910" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000987011.1" } ] } @@ -55476,6 +55822,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "328058" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV001717063.2" + } ] } }, @@ -55597,14 +55953,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11242306:G:C", "display": "NC_000019.9:11242306:G:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "328058" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV001717063.2" } ] } @@ -55797,6 +56145,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "328058" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000410549.3" + } ] } }, @@ -55918,14 +56276,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11242306:G:C", "display": "NC_000019.9:11242306:G:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "328058" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000410549.3" } ] } @@ -56118,6 +56468,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "328058" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000987012.1" + } ] } }, @@ -56239,14 +56599,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11242306:G:C", "display": "NC_000019.9:11242306:G:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "328058" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000987012.1" } ] } @@ -56439,6 +56791,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "328064" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000410555.3" + } ] } }, @@ -56560,14 +56922,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11242495:G:A", "display": "NC_000019.9:11242495:G:A" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "328064" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000410555.3" } ] } @@ -56744,6 +57098,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "328064" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000987015.1" + } ] } }, @@ -56865,14 +57229,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11242495:G:A", "display": "NC_000019.9:11242495:G:A" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "328064" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000987015.1" } ] } @@ -57049,6 +57405,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "328070" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000987013.1" + } ] } }, @@ -57170,14 +57536,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11242657:T:C", "display": "NC_000019.9:11242657:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "328070" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000987013.1" } ] } @@ -57354,6 +57712,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "328070" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000410561.3" + } ] } }, @@ -57475,14 +57843,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11242657:T:C", "display": "NC_000019.9:11242657:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "328070" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000410561.3" } ] } @@ -57659,6 +58019,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "328072" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000987014.1" + } ] } }, @@ -57780,14 +58150,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11242764:A:G", "display": "NC_000019.9:11242764:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "328072" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000987014.1" } ] } @@ -57964,6 +58326,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "328072" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000410563.3" + } ] } }, @@ -58085,14 +58457,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11242764:A:G", "display": "NC_000019.9:11242764:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "328072" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000410563.3" } ] } @@ -58269,6 +58633,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "328086" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000410577.3" + } ] } }, @@ -58390,14 +58764,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11243159:G:A", "display": "NC_000019.9:11243159:G:A" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "328086" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000410577.3" } ] } @@ -58574,6 +58940,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "328089" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000410580.2" + } ] } }, @@ -58695,14 +59071,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11243223:CTACTA:CTA", "display": "NC_000019.9:11243223:CTACTA:CTA" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "328089" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000410580.2" } ] } @@ -58879,6 +59247,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "328091" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000410582.3" + } ] } }, @@ -59000,14 +59378,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11243253:T:C", "display": "NC_000019.9:11243253:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "328091" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000410582.3" } ] } @@ -59184,6 +59554,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "328092" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000410583.3" + } ] } }, @@ -59305,14 +59685,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11243259:C:T", "display": "NC_000019.9:11243259:C:T" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "328092" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000410583.3" } ] } @@ -59489,6 +59861,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "328095" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000410586.3" + } ] } }, @@ -59610,14 +59992,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11243327:C:G", "display": "NC_000019.9:11243327:C:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "328095" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000410586.3" } ] } @@ -59794,6 +60168,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "328096" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000410587.3" + } ] } }, @@ -59915,14 +60299,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11243331:C:A", "display": "NC_000019.9:11243331:C:A" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "328096" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000410587.3" } ] } @@ -60099,6 +60475,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "328099" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000410590.3" + } ] } }, @@ -60220,14 +60606,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11243367:T:C", "display": "NC_000019.9:11243367:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "328099" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000410590.3" } ] } @@ -60404,6 +60782,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "328102" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000410593.3" + } ] } }, @@ -60525,14 +60913,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11243444:A:G", "display": "NC_000019.9:11243444:A:G" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "328102" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000410593.3" } ] } @@ -60709,6 +61089,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "328103" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000410594.3" + } ] } }, @@ -60830,14 +61220,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11243501:T:C", "display": "NC_000019.9:11243501:T:C" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "328103" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000410594.3" } ] } @@ -61014,6 +61396,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "328104" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000410595.3" + } ] } }, @@ -61135,14 +61527,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11243591:G:T", "display": "NC_000019.9:11243591:G:T" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "328104" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000410595.3" } ] } @@ -61319,6 +61703,16 @@ "text": "criteria provided, single submitter" } } + ], + "identifier": [ + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar", + "value": "328106" + }, + { + "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", + "value": "SCV000410597.3" + } ] } }, @@ -61440,14 +61834,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000019.9:11243734:C:T", "display": "NC_000019.9:11243734:C:T" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar", - "code": "328106" - }, - { - "system": "http://www.ncbi.nlm.nih.gov/clinvar/scv", - "code": "SCV000410597.3" } ] } diff --git a/tests/expected_outputs/find_subject_tx_implications/1.json b/tests/expected_outputs/find_subject_tx_implications/1.json index 13cabfab..058de23c 100644 --- a/tests/expected_outputs/find_subject_tx_implications/1.json +++ b/tests/expected_outputs/find_subject_tx_implications/1.json @@ -5,7 +5,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-63287c9ff7c8d34d272a40a9", + "id": "dv-63287c9ff7c8d34d272a3d7a", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication" @@ -70,27 +70,7 @@ ] }, "valueCodeableConcept": { - "text": "A (Validated association)" - } - }, - { - "code": { - "coding": [ - { - "system": "http://loinc.org", - "code": "51963-7", - "display": "medication-assessed" - } - ] - }, - "valueCodeableConcept": { - "coding": [ - { - "system": "http://www.nlm.nih.gov/research/umls/rxnorm", - "code": "1424911", - "display": "Dabrafenib" - } - ] + "text": "B (Clinical evidence)" } }, { @@ -107,8 +87,8 @@ "coding": [ { "system": "http://www.nlm.nih.gov/research/umls/rxnorm", - "code": "1425099", - "display": "Trametinib" + "code": "1147220", + "display": "Vemurafenib" } ] } @@ -127,6 +107,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "5958" + } ] } }, @@ -208,14 +198,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "3017" } ] } @@ -303,7 +285,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-63287c9ff7c8d34d272a3d7a", + "id": "dv-63287c9ff7c8d34d272a3d61", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication" @@ -368,7 +350,7 @@ ] }, "valueCodeableConcept": { - "text": "B (Clinical evidence)" + "text": "C (Case study)" } }, { @@ -385,8 +367,8 @@ "coding": [ { "system": "http://www.nlm.nih.gov/research/umls/rxnorm", - "code": "1147220", - "display": "Vemurafenib" + "code": "1424911", + "display": "Dabrafenib" } ] } @@ -402,9 +384,19 @@ ] }, "valueCodeableConcept": { - "text": "Supports Sensitivity/Response" + "text": "Supports Resistance" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "91" + } ] } }, @@ -486,14 +478,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "5958" } ] } @@ -581,7 +565,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-63287c9ff7c8d34d272a3d61", + "id": "dv-63287c9ff7c8d34d272a40a9", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication" @@ -646,7 +630,7 @@ ] }, "valueCodeableConcept": { - "text": "C (Case study)" + "text": "A (Validated association)" } }, { @@ -669,6 +653,26 @@ ] } }, + { + "code": { + "coding": [ + { + "system": "http://loinc.org", + "code": "51963-7", + "display": "medication-assessed" + } + ] + }, + "valueCodeableConcept": { + "coding": [ + { + "system": "http://www.nlm.nih.gov/research/umls/rxnorm", + "code": "1425099", + "display": "Trametinib" + } + ] + } + }, { "code": { "coding": [ @@ -680,9 +684,19 @@ ] }, "valueCodeableConcept": { - "text": "Supports Resistance" + "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "3017" + } ] } }, @@ -764,14 +778,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "91" } ] } diff --git a/tests/expected_outputs/find_subject_tx_implications/2.json b/tests/expected_outputs/find_subject_tx_implications/2.json index 4c5c7520..d7fdd0e1 100644 --- a/tests/expected_outputs/find_subject_tx_implications/2.json +++ b/tests/expected_outputs/find_subject_tx_implications/2.json @@ -5,7 +5,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-631a4ae012d58a72041f3aba", + "id": "dv-631a4ae712d58a72041f91ac", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication" @@ -35,7 +35,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-61ccfd4a072302a0eb2115c3" + "reference": "Observation/dv-61ccfd4a072302a0eb2115c6" } ], "component": [ @@ -84,9 +84,15 @@ ] }, "valueCodeableConcept": { - "text": "CYP2C19 Rapid Metabolizer" + "text": "Normal Metabolizer" } } + ], + "identifier": [ + { + "system": "https://www.pharmgkb.org", + "value": "PA128" + } ] } }, @@ -94,7 +100,7 @@ "name": "genotype", "resource": { "resourceType": "Observation", - "id": "dv-61ccfd4a072302a0eb2115c3", + "id": "dv-61ccfd4a072302a0eb2115c6", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype" @@ -124,8 +130,8 @@ "coding": [ { "system": "https://www.pharmvar.org", - "code": "CYP2C19 *1/*17", - "display": "CYP2C19 *1/*17" + "code": "CYP2D6 *1/*41", + "display": "CYP2D6 *1/*41" } ] }, @@ -147,27 +153,8 @@ "coding": [ { "system": "http://www.genenames.org/geneId", - "code": "HGNC:2621", - "display": "CYP2C19" - } - ] - } - }, - { - "code": { - "coding": [ - { - "system": "http://loinc.org", - "code": "81252-9", - "display": "Discrete genetic variant" - } - ] - }, - "valueCodeableConcept": { - "coding": [ - { - "system": "https://www.pharmgkb.org", - "code": "PA124" + "code": "HGNC:2625", + "display": "CYP2D6" } ] } @@ -179,7 +166,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-631a4ae712d58a72041f91ac", + "id": "dv-631a4ae012d58a72041f3aba", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication" @@ -209,7 +196,7 @@ }, "derivedFrom": [ { - "reference": "Observation/dv-61ccfd4a072302a0eb2115c6" + "reference": "Observation/dv-61ccfd4a072302a0eb2115c3" } ], "component": [ @@ -258,9 +245,15 @@ ] }, "valueCodeableConcept": { - "text": "Normal Metabolizer" + "text": "CYP2C19 Rapid Metabolizer" } } + ], + "identifier": [ + { + "system": "https://www.pharmgkb.org", + "value": "PA124" + } ] } }, @@ -268,7 +261,7 @@ "name": "genotype", "resource": { "resourceType": "Observation", - "id": "dv-61ccfd4a072302a0eb2115c6", + "id": "dv-61ccfd4a072302a0eb2115c3", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype" @@ -298,8 +291,8 @@ "coding": [ { "system": "https://www.pharmvar.org", - "code": "CYP2D6 *1/*41", - "display": "CYP2D6 *1/*41" + "code": "CYP2C19 *1/*17", + "display": "CYP2C19 *1/*17" } ] }, @@ -321,27 +314,8 @@ "coding": [ { "system": "http://www.genenames.org/geneId", - "code": "HGNC:2625", - "display": "CYP2D6" - } - ] - } - }, - { - "code": { - "coding": [ - { - "system": "http://loinc.org", - "code": "81252-9", - "display": "Discrete genetic variant" - } - ] - }, - "valueCodeableConcept": { - "coding": [ - { - "system": "https://www.pharmgkb.org", - "code": "PA128" + "code": "HGNC:2621", + "display": "CYP2C19" } ] } diff --git a/tests/expected_outputs/find_subject_tx_implications/3.json b/tests/expected_outputs/find_subject_tx_implications/3.json index 6e773996..82cc3a5c 100644 --- a/tests/expected_outputs/find_subject_tx_implications/3.json +++ b/tests/expected_outputs/find_subject_tx_implications/3.json @@ -5,7 +5,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-63287c9ff7c8d34d272a3d67", + "id": "dv-63287c9ff7c8d34d272a3d65", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication" @@ -53,8 +53,8 @@ "coding": [ { "system": "https://disease-ontology.org", - "code": "285", - "display": "Hairy Cell Leukemia" + "code": "8923", + "display": "Skin Melanoma" } ] } @@ -107,6 +107,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "1410" + } ] } }, @@ -188,14 +198,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "1579" } ] } @@ -283,7 +285,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-63287c9ff7c8d34d272a40c8", + "id": "dv-63287c9ff7c8d34d272a4086", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication" @@ -348,7 +350,7 @@ ] }, "valueCodeableConcept": { - "text": "B (Clinical evidence)" + "text": "D (Preclinical evidence)" } }, { @@ -385,6 +387,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "98" + } ] } }, @@ -466,14 +478,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "1902" } ] } @@ -561,7 +565,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-63287c9ff7c8d34d272a3d7e", + "id": "dv-63287c9ff7c8d34d272a3d86", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication" @@ -609,8 +613,8 @@ "coding": [ { "system": "https://disease-ontology.org", - "code": "9256", - "display": "Colorectal Cancer" + "code": "7146", + "display": "Langerhans Cell Sarcoma" } ] } @@ -626,7 +630,7 @@ ] }, "valueCodeableConcept": { - "text": "C (Case study)" + "text": "B (Clinical evidence)" } }, { @@ -663,6 +667,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "7583" + } ] } }, @@ -744,14 +758,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "5960" } ] } @@ -839,7 +845,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-63287c9ff7c8d34d272a4086", + "id": "dv-63287c9ff7c8d34d272a3d6a", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication" @@ -887,8 +893,8 @@ "coding": [ { "system": "https://disease-ontology.org", - "code": "9256", - "display": "Colorectal Cancer" + "code": "9538", + "display": "Multiple Myeloma" } ] } @@ -904,7 +910,7 @@ ] }, "valueCodeableConcept": { - "text": "D (Preclinical evidence)" + "text": "C (Case study)" } }, { @@ -941,6 +947,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "1699" + } ] } }, @@ -1022,14 +1038,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "98" } ] } @@ -1219,6 +1227,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "1698" + } ] } }, @@ -1300,14 +1318,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "1698" } ] } @@ -1395,7 +1405,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-63287c9ff7c8d34d272a3d65", + "id": "dv-63287c9ff7c8d34d272a3d81", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication" @@ -1443,8 +1453,8 @@ "coding": [ { "system": "https://disease-ontology.org", - "code": "8923", - "display": "Skin Melanoma" + "code": "2394", + "display": "Ovarian Cancer" } ] } @@ -1497,6 +1507,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "5959" + } ] } }, @@ -1578,14 +1598,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "1410" } ] } @@ -1673,7 +1685,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-63287c9ff7c8d34d272a3d81", + "id": "dv-63287c9ff7c8d34d272a3d62", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication" @@ -1721,8 +1733,8 @@ "coding": [ { "system": "https://disease-ontology.org", - "code": "2394", - "display": "Ovarian Cancer" + "code": "9256", + "display": "Colorectal Cancer" } ] } @@ -1738,7 +1750,7 @@ ] }, "valueCodeableConcept": { - "text": "B (Clinical evidence)" + "text": "D (Preclinical evidence)" } }, { @@ -1775,6 +1787,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "99" + } ] } }, @@ -1856,14 +1878,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "5959" } ] } @@ -2053,6 +2067,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "5906" + } ] } }, @@ -2134,14 +2158,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "5906" } ] } @@ -2229,7 +2245,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-63287c9ff7c8d34d272a3d6a", + "id": "dv-63287c9ff7c8d34d272a3d82", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication" @@ -2277,8 +2293,8 @@ "coding": [ { "system": "https://disease-ontology.org", - "code": "9538", - "display": "Multiple Myeloma" + "code": "2876", + "display": "Laryngeal Squamous Cell Carcinoma" } ] } @@ -2331,6 +2347,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "5962" + } ] } }, @@ -2412,14 +2438,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "1699" } ] } @@ -2507,7 +2525,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-63287c9ff7c8d34d272a40ca", + "id": "dv-63287c9ff7c8d34d272a3d6b", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication" @@ -2555,8 +2573,8 @@ "coding": [ { "system": "https://disease-ontology.org", - "code": "9256", - "display": "Colorectal Cancer" + "code": "1909", + "display": "Melanoma" } ] } @@ -2572,7 +2590,7 @@ ] }, "valueCodeableConcept": { - "text": "D (Preclinical evidence)" + "text": "B (Clinical evidence)" } }, { @@ -2609,6 +2627,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "1749" + } ] } }, @@ -2690,14 +2718,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "8506" } ] } @@ -2785,7 +2805,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-63287c9ff7c8d34d272a3d86", + "id": "dv-63287c9ff7c8d34d272a3d72", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication" @@ -2833,8 +2853,8 @@ "coding": [ { "system": "https://disease-ontology.org", - "code": "7146", - "display": "Langerhans Cell Sarcoma" + "code": "1909", + "display": "Melanoma" } ] } @@ -2887,6 +2907,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "3755" + } ] } }, @@ -2968,14 +2998,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "7583" } ] } @@ -3063,7 +3085,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-63287c9ff7c8d34d272a3d68", + "id": "dv-63287c9ff7c8d34d272a40f1", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication" @@ -3111,8 +3133,8 @@ "coding": [ { "system": "https://disease-ontology.org", - "code": "3969", - "display": "Thyroid Gland Papillary Carcinoma" + "code": "9256", + "display": "Colorectal Cancer" } ] } @@ -3128,7 +3150,7 @@ ] }, "valueCodeableConcept": { - "text": "B (Clinical evidence)" + "text": "D (Preclinical evidence)" } }, { @@ -3165,6 +3187,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "8507" + } ] } }, @@ -3246,14 +3278,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "1591" } ] } @@ -3341,7 +3365,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-63287c9ff7c8d34d272a3d82", + "id": "dv-63287c9ff7c8d34d272a40ca", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication" @@ -3389,8 +3413,8 @@ "coding": [ { "system": "https://disease-ontology.org", - "code": "2876", - "display": "Laryngeal Squamous Cell Carcinoma" + "code": "9256", + "display": "Colorectal Cancer" } ] } @@ -3406,7 +3430,7 @@ ] }, "valueCodeableConcept": { - "text": "C (Case study)" + "text": "D (Preclinical evidence)" } }, { @@ -3443,6 +3467,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "8506" + } ] } }, @@ -3524,14 +3558,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "5962" } ] } @@ -3721,6 +3747,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "6045" + } ] } }, @@ -3802,14 +3838,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "6045" } ] } @@ -3897,7 +3925,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-63287c9ff7c8d34d272a3d73", + "id": "dv-63287c9ff7c8d34d272a3d68", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication" @@ -3945,8 +3973,8 @@ "coding": [ { "system": "https://disease-ontology.org", - "code": "1909", - "display": "Melanoma" + "code": "3969", + "display": "Thyroid Gland Papillary Carcinoma" } ] } @@ -3999,6 +4027,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "1591" + } ] } }, @@ -4080,14 +4118,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "3757" } ] } @@ -4175,7 +4205,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-63287c9ff7c8d34d272a40ee", + "id": "dv-63287c9ff7c8d34d272a3d74", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication" @@ -4223,8 +4253,8 @@ "coding": [ { "system": "https://disease-ontology.org", - "code": "1909", - "display": "Melanoma" + "code": "6812", + "display": "Childhood Pilocytic Astrocytoma" } ] } @@ -4240,7 +4270,7 @@ ] }, "valueCodeableConcept": { - "text": "B (Clinical evidence)" + "text": "C (Case study)" } }, { @@ -4277,6 +4307,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "3777" + } ] } }, @@ -4358,14 +4398,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "1421" } ] } @@ -4453,7 +4485,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-63287c9ff7c8d34d272a3d74", + "id": "dv-63287c9ff7c8d34d272a40ee", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication" @@ -4501,8 +4533,8 @@ "coding": [ { "system": "https://disease-ontology.org", - "code": "6812", - "display": "Childhood Pilocytic Astrocytoma" + "code": "1909", + "display": "Melanoma" } ] } @@ -4518,7 +4550,7 @@ ] }, "valueCodeableConcept": { - "text": "C (Case study)" + "text": "B (Clinical evidence)" } }, { @@ -4555,6 +4587,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "1421" + } ] } }, @@ -4636,14 +4678,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "3777" } ] } @@ -4731,7 +4765,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-63287c9ff7c8d34d272a40ed", + "id": "dv-63287c9ff7c8d34d272a3d7e", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication" @@ -4796,7 +4830,7 @@ ] }, "valueCodeableConcept": { - "text": "B (Clinical evidence)" + "text": "C (Case study)" } }, { @@ -4830,9 +4864,19 @@ ] }, "valueCodeableConcept": { - "text": "Does Not Support Sensitivity/Response" + "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "5960" + } ] } }, @@ -4914,14 +4958,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "1413" } ] } @@ -5009,7 +5045,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-63287c9ff7c8d34d272a3d75", + "id": "dv-63287c9ff7c8d34d272a40a8", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication" @@ -5057,8 +5093,8 @@ "coding": [ { "system": "https://disease-ontology.org", - "code": "50933", - "display": "Ovarian Serous Carcinoma" + "code": "50626", + "display": "Gastrointestinal Neuroendocrine Tumor" } ] } @@ -5111,6 +5147,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "1430" + } ] } }, @@ -5192,14 +5238,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "3787" } ] } @@ -5287,7 +5325,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-63287c9ff7c8d34d272a3d71", + "id": "dv-63287c9ff7c8d34d272a3d7b", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication" @@ -5335,8 +5373,8 @@ "coding": [ { "system": "https://disease-ontology.org", - "code": "1909", - "display": "Melanoma" + "code": "8923", + "display": "Skin Melanoma" } ] } @@ -5352,7 +5390,7 @@ ] }, "valueCodeableConcept": { - "text": "B (Clinical evidence)" + "text": "A (Validated association)" } }, { @@ -5389,6 +5427,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "1409" + } ] } }, @@ -5470,14 +5518,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "3750" } ] } @@ -5565,7 +5605,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-63287c9ff7c8d34d272a3d6b", + "id": "dv-63287c9ff7c8d34d272a40d4", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication" @@ -5613,8 +5653,8 @@ "coding": [ { "system": "https://disease-ontology.org", - "code": "1909", - "display": "Melanoma" + "code": "9256", + "display": "Colorectal Cancer" } ] } @@ -5630,7 +5670,7 @@ ] }, "valueCodeableConcept": { - "text": "B (Clinical evidence)" + "text": "C (Case study)" } }, { @@ -5667,6 +5707,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "1589" + } ] } }, @@ -5748,14 +5798,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "1749" } ] } @@ -5843,7 +5885,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-63287c9ff7c8d34d272a3d72", + "id": "dv-63287c9ff7c8d34d272a3d84", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication" @@ -5891,8 +5933,8 @@ "coding": [ { "system": "https://disease-ontology.org", - "code": "1909", - "display": "Melanoma" + "code": "3969", + "display": "Thyroid Gland Papillary Carcinoma" } ] } @@ -5945,6 +5987,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "9018" + } ] } }, @@ -6026,14 +6078,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "3755" } ] } @@ -6121,7 +6165,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-63287c9ff7c8d34d272a3d5e", + "id": "dv-63287c9ff7c8d34d272a3d7f", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication" @@ -6169,8 +6213,8 @@ "coding": [ { "system": "https://disease-ontology.org", - "code": "1909", - "display": "Melanoma" + "code": "9256", + "display": "Colorectal Cancer" } ] } @@ -6186,7 +6230,7 @@ ] }, "valueCodeableConcept": { - "text": "D (Preclinical evidence)" + "text": "B (Clinical evidence)" } }, { @@ -6220,9 +6264,19 @@ ] }, "valueCodeableConcept": { - "text": "Supports Resistance" + "text": "Does Not Support Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "1405" + } ] } }, @@ -6304,14 +6358,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "90" } ] } @@ -6399,7 +6445,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-63287c9ff7c8d34d272a40a8", + "id": "dv-63287c9ff7c8d34d272a3d66", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication" @@ -6447,8 +6493,8 @@ "coding": [ { "system": "https://disease-ontology.org", - "code": "50626", - "display": "Gastrointestinal Neuroendocrine Tumor" + "code": "3969", + "display": "Thyroid Gland Papillary Carcinoma" } ] } @@ -6501,6 +6547,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "1414" + } ] } }, @@ -6582,14 +6638,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "1430" } ] } @@ -6677,7 +6725,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-63287c9ff7c8d34d272a3d7b", + "id": "dv-63287c9ff7c8d34d272a3d73", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication" @@ -6725,8 +6773,8 @@ "coding": [ { "system": "https://disease-ontology.org", - "code": "8923", - "display": "Skin Melanoma" + "code": "1909", + "display": "Melanoma" } ] } @@ -6742,7 +6790,7 @@ ] }, "valueCodeableConcept": { - "text": "A (Validated association)" + "text": "B (Clinical evidence)" } }, { @@ -6779,6 +6827,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "3757" + } ] } }, @@ -6860,14 +6918,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "1409" } ] } @@ -6955,7 +7005,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-63287c9ff7c8d34d272a3d7a", + "id": "dv-63287c9ff7c8d34d272a40ed", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication" @@ -7003,8 +7053,8 @@ "coding": [ { "system": "https://disease-ontology.org", - "code": "3908", - "display": "Lung Non-small Cell Carcinoma" + "code": "9256", + "display": "Colorectal Cancer" } ] } @@ -7054,9 +7104,19 @@ ] }, "valueCodeableConcept": { - "text": "Supports Sensitivity/Response" + "text": "Does Not Support Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "1413" + } ] } }, @@ -7138,14 +7198,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "5958" } ] } @@ -7233,7 +7285,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-63287c9ff7c8d34d272a3d84", + "id": "dv-63287c9ff7c8d34d272a3d71", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication" @@ -7281,8 +7333,8 @@ "coding": [ { "system": "https://disease-ontology.org", - "code": "3969", - "display": "Thyroid Gland Papillary Carcinoma" + "code": "1909", + "display": "Melanoma" } ] } @@ -7335,6 +7387,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "3750" + } ] } }, @@ -7416,14 +7478,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "9018" } ] } @@ -7511,7 +7565,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-63287c9ff7c8d34d272a4090", + "id": "dv-63287c9ff7c8d34d272a40c8", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication" @@ -7576,7 +7630,7 @@ ] }, "valueCodeableConcept": { - "text": "D (Preclinical evidence)" + "text": "B (Clinical evidence)" } }, { @@ -7613,6 +7667,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "1902" + } ] } }, @@ -7694,14 +7758,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "1408" } ] } @@ -7789,7 +7845,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-63287c9ff7c8d34d272a3d7f", + "id": "dv-63287c9ff7c8d34d272a3d7d", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication" @@ -7837,8 +7893,8 @@ "coding": [ { "system": "https://disease-ontology.org", - "code": "9256", - "display": "Colorectal Cancer" + "code": "1909", + "display": "Melanoma" } ] } @@ -7888,9 +7944,19 @@ ] }, "valueCodeableConcept": { - "text": "Does Not Support Sensitivity/Response" + "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "1398" + } ] } }, @@ -7972,14 +8038,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "1405" } ] } @@ -8067,7 +8125,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-63287c9ff7c8d34d272a40f1", + "id": "dv-63287c9ff7c8d34d272a4090", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication" @@ -8169,6 +8227,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "1408" + } ] } }, @@ -8250,14 +8318,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "8507" } ] } @@ -8345,7 +8405,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-63287c9ff7c8d34d272a40ef", + "id": "dv-63287c9ff7c8d34d272a3d5e", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication" @@ -8393,8 +8453,8 @@ "coding": [ { "system": "https://disease-ontology.org", - "code": "80522", - "display": "Thyroid Gland Anaplastic Carcinoma" + "code": "1909", + "display": "Melanoma" } ] } @@ -8410,7 +8470,7 @@ ] }, "valueCodeableConcept": { - "text": "C (Case study)" + "text": "D (Preclinical evidence)" } }, { @@ -8444,9 +8504,19 @@ ] }, "valueCodeableConcept": { - "text": "Supports Sensitivity/Response" + "text": "Supports Resistance" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "90" + } ] } }, @@ -8528,14 +8598,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "5961" } ] } @@ -8623,7 +8685,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-63287c9ff7c8d34d272a3d62", + "id": "dv-63287c9ff7c8d34d272a3d67", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication" @@ -8671,8 +8733,8 @@ "coding": [ { "system": "https://disease-ontology.org", - "code": "9256", - "display": "Colorectal Cancer" + "code": "285", + "display": "Hairy Cell Leukemia" } ] } @@ -8688,7 +8750,7 @@ ] }, "valueCodeableConcept": { - "text": "D (Preclinical evidence)" + "text": "B (Clinical evidence)" } }, { @@ -8725,6 +8787,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "1579" + } ] } }, @@ -8806,14 +8878,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "99" } ] } @@ -8901,7 +8965,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-63287c9ff7c8d34d272a3d66", + "id": "dv-63287c9ff7c8d34d272a40ef", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication" @@ -8949,8 +9013,8 @@ "coding": [ { "system": "https://disease-ontology.org", - "code": "3969", - "display": "Thyroid Gland Papillary Carcinoma" + "code": "80522", + "display": "Thyroid Gland Anaplastic Carcinoma" } ] } @@ -9003,6 +9067,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "5961" + } ] } }, @@ -9084,14 +9158,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "1414" } ] } @@ -9179,7 +9245,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-63287c9ff7c8d34d272a3d7d", + "id": "dv-63287c9ff7c8d34d272a3d7a", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication" @@ -9227,8 +9293,8 @@ "coding": [ { "system": "https://disease-ontology.org", - "code": "1909", - "display": "Melanoma" + "code": "3908", + "display": "Lung Non-small Cell Carcinoma" } ] } @@ -9281,6 +9347,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "5958" + } ] } }, @@ -9362,14 +9438,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "1398" } ] } @@ -9457,7 +9525,7 @@ "name": "implication", "resource": { "resourceType": "Observation", - "id": "dv-63287c9ff7c8d34d272a40d4", + "id": "dv-63287c9ff7c8d34d272a3d75", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication" @@ -9505,8 +9573,8 @@ "coding": [ { "system": "https://disease-ontology.org", - "code": "9256", - "display": "Colorectal Cancer" + "code": "50933", + "display": "Ovarian Serous Carcinoma" } ] } @@ -9559,6 +9627,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "3787" + } ] } }, @@ -9640,14 +9718,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "1589" } ] } diff --git a/tests/expected_outputs/find_subject_tx_implications/4.json b/tests/expected_outputs/find_subject_tx_implications/4.json index 8f156327..30588856 100644 --- a/tests/expected_outputs/find_subject_tx_implications/4.json +++ b/tests/expected_outputs/find_subject_tx_implications/4.json @@ -87,6 +87,12 @@ "text": "CYP2C19 Rapid Metabolizer" } } + ], + "identifier": [ + { + "system": "https://www.pharmgkb.org", + "value": "PA124" + } ] } }, @@ -152,25 +158,6 @@ } ] } - }, - { - "code": { - "coding": [ - { - "system": "http://loinc.org", - "code": "81252-9", - "display": "Discrete genetic variant" - } - ] - }, - "valueCodeableConcept": { - "coding": [ - { - "system": "https://www.pharmgkb.org", - "code": "PA124" - } - ] - } } ] } @@ -261,6 +248,12 @@ "text": "CYP2C19 Rapid Metabolizer" } } + ], + "identifier": [ + { + "system": "https://www.pharmgkb.org", + "value": "PA124" + } ] } }, @@ -326,25 +319,6 @@ } ] } - }, - { - "code": { - "coding": [ - { - "system": "http://loinc.org", - "code": "81252-9", - "display": "Discrete genetic variant" - } - ] - }, - "valueCodeableConcept": { - "coding": [ - { - "system": "https://www.pharmgkb.org", - "code": "PA124" - } - ] - } } ] } @@ -435,6 +409,12 @@ "text": "CYP2C19 Rapid Metabolizer" } } + ], + "identifier": [ + { + "system": "https://www.pharmgkb.org", + "value": "PA124" + } ] } }, @@ -500,25 +480,6 @@ } ] } - }, - { - "code": { - "coding": [ - { - "system": "http://loinc.org", - "code": "81252-9", - "display": "Discrete genetic variant" - } - ] - }, - "valueCodeableConcept": { - "coding": [ - { - "system": "https://www.pharmgkb.org", - "code": "PA124" - } - ] - } } ] } @@ -609,6 +570,12 @@ "text": "CYP2C19 Rapid Metabolizer" } } + ], + "identifier": [ + { + "system": "https://www.pharmgkb.org", + "value": "PA124" + } ] } }, @@ -674,25 +641,6 @@ } ] } - }, - { - "code": { - "coding": [ - { - "system": "http://loinc.org", - "code": "81252-9", - "display": "Discrete genetic variant" - } - ] - }, - "valueCodeableConcept": { - "coding": [ - { - "system": "https://www.pharmgkb.org", - "code": "PA124" - } - ] - } } ] } @@ -783,6 +731,12 @@ "text": "CYP2C19 Rapid Metabolizer" } } + ], + "identifier": [ + { + "system": "https://www.pharmgkb.org", + "value": "PA124" + } ] } }, @@ -848,25 +802,6 @@ } ] } - }, - { - "code": { - "coding": [ - { - "system": "http://loinc.org", - "code": "81252-9", - "display": "Discrete genetic variant" - } - ] - }, - "valueCodeableConcept": { - "coding": [ - { - "system": "https://www.pharmgkb.org", - "code": "PA124" - } - ] - } } ] } @@ -957,6 +892,12 @@ "text": "Normal Metabolizer" } } + ], + "identifier": [ + { + "system": "https://www.pharmgkb.org", + "value": "PA128" + } ] } }, @@ -1022,25 +963,6 @@ } ] } - }, - { - "code": { - "coding": [ - { - "system": "http://loinc.org", - "code": "81252-9", - "display": "Discrete genetic variant" - } - ] - }, - "valueCodeableConcept": { - "coding": [ - { - "system": "https://www.pharmgkb.org", - "code": "PA128" - } - ] - } } ] } @@ -1131,6 +1053,12 @@ "text": "Normal Metabolizer" } } + ], + "identifier": [ + { + "system": "https://www.pharmgkb.org", + "value": "PA128" + } ] } }, @@ -1196,25 +1124,6 @@ } ] } - }, - { - "code": { - "coding": [ - { - "system": "http://loinc.org", - "code": "81252-9", - "display": "Discrete genetic variant" - } - ] - }, - "valueCodeableConcept": { - "coding": [ - { - "system": "https://www.pharmgkb.org", - "code": "PA128" - } - ] - } } ] } @@ -1305,6 +1214,12 @@ "text": "Normal Metabolizer" } } + ], + "identifier": [ + { + "system": "https://www.pharmgkb.org", + "value": "PA128" + } ] } }, @@ -1370,25 +1285,6 @@ } ] } - }, - { - "code": { - "coding": [ - { - "system": "http://loinc.org", - "code": "81252-9", - "display": "Discrete genetic variant" - } - ] - }, - "valueCodeableConcept": { - "coding": [ - { - "system": "https://www.pharmgkb.org", - "code": "PA128" - } - ] - } } ] } @@ -1479,6 +1375,12 @@ "text": "Normal Metabolizer" } } + ], + "identifier": [ + { + "system": "https://www.pharmgkb.org", + "value": "PA128" + } ] } }, @@ -1544,25 +1446,6 @@ } ] } - }, - { - "code": { - "coding": [ - { - "system": "http://loinc.org", - "code": "81252-9", - "display": "Discrete genetic variant" - } - ] - }, - "valueCodeableConcept": { - "coding": [ - { - "system": "https://www.pharmgkb.org", - "code": "PA128" - } - ] - } } ] } @@ -1653,6 +1536,12 @@ "text": "Normal Metabolizer" } } + ], + "identifier": [ + { + "system": "https://www.pharmgkb.org", + "value": "PA128" + } ] } }, @@ -1718,25 +1607,6 @@ } ] } - }, - { - "code": { - "coding": [ - { - "system": "http://loinc.org", - "code": "81252-9", - "display": "Discrete genetic variant" - } - ] - }, - "valueCodeableConcept": { - "coding": [ - { - "system": "https://www.pharmgkb.org", - "code": "PA128" - } - ] - } } ] } @@ -1827,6 +1697,12 @@ "text": "Normal Metabolizer" } } + ], + "identifier": [ + { + "system": "https://www.pharmgkb.org", + "value": "PA128" + } ] } }, @@ -1892,25 +1768,6 @@ } ] } - }, - { - "code": { - "coding": [ - { - "system": "http://loinc.org", - "code": "81252-9", - "display": "Discrete genetic variant" - } - ] - }, - "valueCodeableConcept": { - "coding": [ - { - "system": "https://www.pharmgkb.org", - "code": "PA128" - } - ] - } } ] } @@ -2001,6 +1858,12 @@ "text": "Normal Metabolizer" } } + ], + "identifier": [ + { + "system": "https://www.pharmgkb.org", + "value": "PA128" + } ] } }, @@ -2066,25 +1929,6 @@ } ] } - }, - { - "code": { - "coding": [ - { - "system": "http://loinc.org", - "code": "81252-9", - "display": "Discrete genetic variant" - } - ] - }, - "valueCodeableConcept": { - "coding": [ - { - "system": "https://www.pharmgkb.org", - "code": "PA128" - } - ] - } } ] } @@ -2175,6 +2019,12 @@ "text": "Normal Metabolizer" } } + ], + "identifier": [ + { + "system": "https://www.pharmgkb.org", + "value": "PA128" + } ] } }, @@ -2240,25 +2090,6 @@ } ] } - }, - { - "code": { - "coding": [ - { - "system": "http://loinc.org", - "code": "81252-9", - "display": "Discrete genetic variant" - } - ] - }, - "valueCodeableConcept": { - "coding": [ - { - "system": "https://www.pharmgkb.org", - "code": "PA128" - } - ] - } } ] } @@ -2349,6 +2180,12 @@ "text": "Normal Metabolizer" } } + ], + "identifier": [ + { + "system": "https://www.pharmgkb.org", + "value": "PA128" + } ] } }, @@ -2414,25 +2251,6 @@ } ] } - }, - { - "code": { - "coding": [ - { - "system": "http://loinc.org", - "code": "81252-9", - "display": "Discrete genetic variant" - } - ] - }, - "valueCodeableConcept": { - "coding": [ - { - "system": "https://www.pharmgkb.org", - "code": "PA128" - } - ] - } } ] } @@ -2523,6 +2341,12 @@ "text": "Normal Metabolizer" } } + ], + "identifier": [ + { + "system": "https://www.pharmgkb.org", + "value": "PA128" + } ] } }, @@ -2588,25 +2412,6 @@ } ] } - }, - { - "code": { - "coding": [ - { - "system": "http://loinc.org", - "code": "81252-9", - "display": "Discrete genetic variant" - } - ] - }, - "valueCodeableConcept": { - "coding": [ - { - "system": "https://www.pharmgkb.org", - "code": "PA128" - } - ] - } } ] } @@ -2697,6 +2502,12 @@ "text": "Normal Metabolizer" } } + ], + "identifier": [ + { + "system": "https://www.pharmgkb.org", + "value": "PA128" + } ] } }, @@ -2762,25 +2573,6 @@ } ] } - }, - { - "code": { - "coding": [ - { - "system": "http://loinc.org", - "code": "81252-9", - "display": "Discrete genetic variant" - } - ] - }, - "valueCodeableConcept": { - "coding": [ - { - "system": "https://www.pharmgkb.org", - "code": "PA128" - } - ] - } } ] } diff --git a/tests/expected_outputs/find_subject_tx_implications/5.json b/tests/expected_outputs/find_subject_tx_implications/5.json index d178163c..058de23c 100644 --- a/tests/expected_outputs/find_subject_tx_implications/5.json +++ b/tests/expected_outputs/find_subject_tx_implications/5.json @@ -107,6 +107,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "5958" + } ] } }, @@ -188,14 +198,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "5958" } ] } @@ -385,6 +387,16 @@ "text": "Supports Resistance" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "91" + } ] } }, @@ -466,14 +478,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "91" } ] } @@ -683,6 +687,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "3017" + } ] } }, @@ -764,14 +778,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "3017" } ] } diff --git a/tests/expected_outputs/find_subject_tx_implications/6.json b/tests/expected_outputs/find_subject_tx_implications/6.json index 5dfc4489..dd6e1f5e 100644 --- a/tests/expected_outputs/find_subject_tx_implications/6.json +++ b/tests/expected_outputs/find_subject_tx_implications/6.json @@ -107,6 +107,16 @@ "text": "Does Not Support Resistance" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "86" + } ] } }, @@ -188,14 +198,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "86" } ] } @@ -385,6 +387,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "99" + } ] } }, @@ -466,14 +478,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "99" } ] } @@ -663,6 +667,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "1410" + } ] } }, @@ -744,14 +758,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "1410" } ] } @@ -941,6 +947,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "1699" + } ] } }, @@ -1022,14 +1038,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "1699" } ] } @@ -1219,6 +1227,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "1749" + } ] } }, @@ -1300,14 +1318,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "1749" } ] } @@ -1497,6 +1507,16 @@ "text": "Supports Resistance" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "2115" + } ] } }, @@ -1578,14 +1598,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "2115" } ] } @@ -1775,6 +1787,16 @@ "text": "Supports Resistance" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "2117" + } ] } }, @@ -1856,14 +1878,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "2117" } ] } @@ -2053,6 +2067,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "1398" + } ] } }, @@ -2134,14 +2158,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "1398" } ] } @@ -2331,6 +2347,16 @@ "text": "Does Not Support Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "1405" + } ] } }, @@ -2412,14 +2438,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "1405" } ] } @@ -2609,6 +2627,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "6045" + } ] } }, @@ -2690,14 +2718,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "6045" } ] } @@ -2887,6 +2907,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "5962" + } ] } }, @@ -2968,14 +2998,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "5962" } ] } @@ -3165,6 +3187,16 @@ "text": "Supports Resistance" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "126" + } ] } }, @@ -3246,14 +3278,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "126" } ] } @@ -3443,6 +3467,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "1698" + } ] } }, @@ -3524,14 +3558,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "1698" } ] } @@ -3721,6 +3747,16 @@ "text": "Supports Resistance" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "2115" + } ] } }, @@ -3802,14 +3838,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "2115" } ] } @@ -3999,6 +4027,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "3757" + } ] } }, @@ -4080,14 +4118,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "3757" } ] } @@ -4277,6 +4307,16 @@ "text": "Does Not Support Resistance" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "816" + } ] } }, @@ -4358,14 +4398,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "816" } ] } @@ -4555,6 +4587,16 @@ "text": "Supports Resistance" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "2118" + } ] } }, @@ -4636,14 +4678,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "2118" } ] } @@ -4833,6 +4867,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "1409" + } ] } }, @@ -4914,14 +4958,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "1409" } ] } @@ -5111,6 +5147,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "5958" + } ] } }, @@ -5192,14 +5238,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "5958" } ] } @@ -5389,6 +5427,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "5959" + } ] } }, @@ -5470,14 +5518,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "5959" } ] } @@ -5667,6 +5707,16 @@ "text": "Does Not Support Resistance" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "86" + } ] } }, @@ -5748,14 +5798,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "86" } ] } @@ -5945,6 +5987,16 @@ "text": "Supports Resistance" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "90" + } ] } }, @@ -6026,14 +6078,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "90" } ] } @@ -6223,6 +6267,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "3750" + } ] } }, @@ -6304,14 +6358,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "3750" } ] } @@ -6501,6 +6547,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "3777" + } ] } }, @@ -6582,14 +6638,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "3777" } ] } @@ -6779,6 +6827,16 @@ "text": "Does Not Support Resistance" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "994" + } ] } }, @@ -6860,14 +6918,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "994" } ] } @@ -7057,6 +7107,16 @@ "text": "Supports Resistance" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "91" + } ] } }, @@ -7138,14 +7198,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "91" } ] } @@ -7335,6 +7387,16 @@ "text": "Does Not Support Resistance" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "816" + } ] } }, @@ -7416,14 +7478,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "816" } ] } @@ -7613,6 +7667,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "1591" + } ] } }, @@ -7694,14 +7758,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "1591" } ] } @@ -7891,6 +7947,16 @@ "text": "Supports Resistance" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "3827" + } ] } }, @@ -7972,14 +8038,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "3827" } ] } @@ -8169,6 +8227,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "1141" + } ] } }, @@ -8250,14 +8318,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "1141" } ] } @@ -8447,6 +8507,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "2135" + } ] } }, @@ -8528,14 +8598,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "2135" } ] } @@ -8725,6 +8787,16 @@ "text": "Does Not Support Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "1406" + } ] } }, @@ -8806,14 +8878,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "1406" } ] } @@ -9003,6 +9067,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "5960" + } ] } }, @@ -9084,14 +9158,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "5960" } ] } @@ -9281,6 +9347,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "9018" + } ] } }, @@ -9362,14 +9438,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "9018" } ] } @@ -9559,6 +9627,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "757" + } ] } }, @@ -9640,14 +9718,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "757" } ] } @@ -9837,6 +9907,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "1414" + } ] } }, @@ -9918,14 +9998,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "1414" } ] } @@ -10115,6 +10187,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "1579" + } ] } }, @@ -10196,14 +10278,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "1579" } ] } @@ -10393,6 +10467,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "3755" + } ] } }, @@ -10474,14 +10558,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "3755" } ] } @@ -10671,6 +10747,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "3787" + } ] } }, @@ -10752,14 +10838,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "3787" } ] } @@ -10949,6 +11027,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "7583" + } ] } }, @@ -11030,14 +11118,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "7583" } ] } @@ -11267,6 +11347,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "1430" + } ] } }, @@ -11348,14 +11438,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "1430" } ] } @@ -11565,6 +11647,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "3758" + } ] } }, @@ -11646,14 +11738,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "3758" } ] } @@ -11863,6 +11947,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "5903" + } ] } }, @@ -11944,14 +12038,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "5903" } ] } @@ -12161,6 +12247,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "6178" + } ] } }, @@ -12242,14 +12338,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "6178" } ] } @@ -12459,6 +12547,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "1428" + } ] } }, @@ -12540,14 +12638,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "1428" } ] } @@ -12777,6 +12867,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "7260" + } ] } }, @@ -12858,14 +12958,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "7260" } ] } @@ -13095,6 +13187,16 @@ "text": "Supports Resistance" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "2121" + } ] } }, @@ -13176,14 +13278,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "2121" } ] } @@ -13393,6 +13487,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "1589" + } ] } }, @@ -13474,14 +13578,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "1589" } ] } @@ -13691,6 +13787,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "96" + } ] } }, @@ -13772,14 +13878,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "96" } ] } @@ -14009,6 +14107,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "7612" + } ] } }, @@ -14090,14 +14198,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "7612" } ] } @@ -14307,6 +14407,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "6940" + } ] } }, @@ -14388,14 +14498,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "6940" } ] } @@ -14605,6 +14707,16 @@ "text": "Does Not Support Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "1413" + } ] } }, @@ -14686,14 +14798,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "1413" } ] } @@ -14923,6 +15027,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "98" + } ] } }, @@ -15004,14 +15118,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "98" } ] } @@ -15221,6 +15327,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "7264" + } ] } }, @@ -15302,14 +15418,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "7264" } ] } @@ -15539,6 +15647,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "1902" + } ] } }, @@ -15620,14 +15738,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "1902" } ] } @@ -15857,6 +15967,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "5906" + } ] } }, @@ -15938,14 +16058,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "5906" } ] } @@ -16155,6 +16267,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "97" + } ] } }, @@ -16236,14 +16358,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "97" } ] } @@ -16453,6 +16567,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "89" + } ] } }, @@ -16534,14 +16658,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "89" } ] } @@ -16751,6 +16867,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "1421" + } ] } }, @@ -16832,14 +16958,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "1421" } ] } @@ -17049,6 +17167,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "5904" + } ] } }, @@ -17130,14 +17258,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "5904" } ] } @@ -17347,6 +17467,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "95" + } ] } }, @@ -17428,14 +17558,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "95" } ] } @@ -17645,6 +17767,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "6975" + } ] } }, @@ -17726,14 +17858,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "6975" } ] } @@ -17943,6 +18067,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "5961" + } ] } }, @@ -18024,14 +18158,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "5961" } ] } @@ -18241,6 +18367,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "9851" + } ] } }, @@ -18322,14 +18458,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "9851" } ] } @@ -18559,6 +18687,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "1408" + } ] } }, @@ -18640,14 +18778,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "1408" } ] } @@ -18857,6 +18987,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "3017" + } ] } }, @@ -18938,14 +19078,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "3017" } ] } @@ -19155,6 +19287,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "5902" + } ] } }, @@ -19236,14 +19378,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "5902" } ] } @@ -19473,6 +19607,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "8506" + } ] } }, @@ -19554,14 +19698,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "8506" } ] } @@ -19771,6 +19907,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "8507" + } ] } }, @@ -19852,14 +19998,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "8507" } ] } @@ -20069,6 +20207,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "1005" + } ] } }, @@ -20150,14 +20298,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "1005" } ] } @@ -20367,6 +20507,16 @@ "text": "Supports Resistance" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "3739" + } ] } }, @@ -20448,14 +20598,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "3739" } ] } @@ -20685,6 +20827,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "6123" + } ] } }, @@ -20766,14 +20918,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "6123" } ] } @@ -20983,6 +21127,16 @@ "text": "Does Not Support Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "6124" + } ] } }, @@ -21064,14 +21218,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "6124" } ] } @@ -21281,6 +21427,16 @@ "text": "Supports Sensitivity/Response" } } + ], + "identifier": [ + { + "system": "https://civicdb.org/variant", + "value": "12" + }, + { + "system": "https://civicdb.org/evidence", + "value": "6938" + } ] } }, @@ -21362,14 +21518,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000007.14:140753335:A:T", "display": "NC_000007.14:140753335:A:T" - }, - { - "system": "https://civicdb.org/variant", - "code": "12" - }, - { - "system": "https://civicdb.org/evidence", - "code": "6938" } ] } diff --git a/tests/expected_outputs/find_subject_tx_implications/7.json b/tests/expected_outputs/find_subject_tx_implications/7.json index e0df8df0..dd3adc41 100644 --- a/tests/expected_outputs/find_subject_tx_implications/7.json +++ b/tests/expected_outputs/find_subject_tx_implications/7.json @@ -93,6 +93,12 @@ "text": "Patient eligible for clinical trial" } } + ], + "identifier": [ + { + "system": "https://clinicaltrials.gov/", + "value": "NCT05023655" + } ] } }, @@ -194,10 +200,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000001.10:27105549:C:T", "display": "NC_000001.10:27105549:C:T" - }, - { - "system": "https://clinicaltrials.gov/", - "code": "NCT05023655" } ] } @@ -374,6 +376,12 @@ "text": "Patient eligible for clinical trial" } } + ], + "identifier": [ + { + "system": "https://clinicaltrials.gov/", + "value": "NCT05023655" + } ] } }, @@ -475,10 +483,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000001.10:27106893::T", "display": "NC_000001.10:27106893::T" - }, - { - "system": "https://clinicaltrials.gov/", - "code": "NCT05023655" } ] } diff --git a/tests/expected_outputs/find_subject_tx_implications/8.json b/tests/expected_outputs/find_subject_tx_implications/8.json index 4c90da87..6c205dcb 100644 --- a/tests/expected_outputs/find_subject_tx_implications/8.json +++ b/tests/expected_outputs/find_subject_tx_implications/8.json @@ -93,6 +93,12 @@ "text": "Patient eligible for clinical trial" } } + ], + "identifier": [ + { + "system": "https://clinicaltrials.gov/", + "value": "NCT05023655" + } ] } }, @@ -194,10 +200,6 @@ "system": "https://api.ncbi.nlm.nih.gov/variation/v0/", "code": "NC_000001.10:27106893::T", "display": "NC_000001.10:27106893::T" - }, - { - "system": "https://clinicaltrials.gov/", - "code": "NCT05023655" } ] }