ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.10294C>G (p.Gln3432Glu)

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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224150 SCV000281061 likely benign not provided 2017-08-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001837463 SCV000284752 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000443322 SCV000521117 benign not specified 2016-11-25 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.
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000157118 SCV000588450 likely benign Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Fundacion Hipercolesterolemia Familiar RCV000157118 SCV000607382 likely benign Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Color Diagnostics, LLC DBA Color Health RCV000157118 SCV000687188 likely benign Hypercholesterolemia, familial, 1 2017-06-27 criteria provided, single submitter clinical testing
Robarts Research Institute, Western University RCV000157118 SCV000782786 benign Hypercholesterolemia, familial, 1 2018-01-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000224150 SCV001133382 benign not provided 2023-06-05 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001137197 SCV001297112 likely benign Hypercholesterolemia, autosomal dominant, type B 2018-01-29 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.
CeGaT Center for Human Genetics Tuebingen RCV000224150 SCV002544002 benign not provided 2024-08-01 criteria provided, single submitter clinical testing APOB: BP4, BS1, BS2
Ambry Genetics RCV002381506 SCV002691857 benign Cardiovascular phenotype 2016-01-04 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000224150 SCV003799738 benign not provided 2023-09-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000224150 SCV005262626 likely benign not provided criteria provided, single submitter not provided
Blueprint Genetics RCV000157118 SCV000206841 likely benign Hypercholesterolemia, familial, 1 2014-12-02 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000443322 SCV001921336 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000224150 SCV001962750 likely benign not provided no assertion criteria provided clinical testing

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