ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.2188G>A (p.Val730Ile)

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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000202719 SCV000257677 benign Hypercholesterolemia, familial, 1 2015-06-25 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000116385 SCV000303935 benign not specified criteria provided, single submitter clinical testing
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge RCV000202719 SCV000322836 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Illumina Laboratory Services, Illumina RCV001094740 SCV000427142 likely benign Hypercholesterolemia, autosomal dominant, type B 2018-01-19 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV001837456 SCV000554836 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-02-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578002 SCV000679804 likely benign Familial hypobetalipoproteinemia 1 2017-08-01 criteria provided, single submitter clinical testing
GeneDx RCV000116385 SCV000729919 benign not specified 2017-03-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759455 SCV000888782 benign not provided 2022-08-11 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000771065 SCV000902577 benign Familial hypercholesterolemia 2017-06-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000759455 SCV002048356 benign not provided 2023-11-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002426658 SCV002728559 benign Cardiovascular phenotype 2016-01-12 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genetic Services Laboratory, University of Chicago RCV000116385 SCV000150309 uncertain significance not specified 2014-08-22 flagged submission clinical testing
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000202719 SCV000588421 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 flagged submission research
Clinical Genetics, Academic Medical Center RCV000116385 SCV001918921 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000116385 SCV001962827 benign not specified no assertion criteria provided clinical testing
Cohesion Phenomics RCV000771065 SCV003836795 likely benign Familial hypercholesterolemia 2023-02-09 no assertion criteria provided clinical testing

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