ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.293C>T (p.Thr98Ile)

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Total submissions: 17
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000116386 SCV000303938 likely benign not specified criteria provided, single submitter clinical testing
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge RCV000256320 SCV000322824 benign Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Illumina Laboratory Services, Illumina RCV000324495 SCV000427186 likely benign Familial hypobetalipoproteinemia 1 2017-04-27 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.
Illumina Laboratory Services, Illumina RCV001094606 SCV000427187 likely benign Hypercholesterolemia, autosomal dominant, type B 2017-04-27 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.
GeneDx RCV000116386 SCV000519342 benign not specified 2016-10-27 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 RCV000256320 SCV000588412 benign Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Color Diagnostics, LLC DBA Color Health RCV000256320 SCV000687224 benign Hypercholesterolemia, familial, 1 2017-06-26 criteria provided, single submitter clinical testing
Invitae RCV001837457 SCV001728419 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001094606 SCV001774908 benign Hypercholesterolemia, autosomal dominant, type B 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000324495 SCV001774909 benign Familial hypobetalipoproteinemia 1 2021-07-14 criteria provided, single submitter clinical testing
Cohesion Phenomics RCV000771030 SCV002524050 benign Familial hypercholesterolemia 2022-06-06 criteria provided, single submitter clinical testing ACMG Guidelines, 2015; BA1-Allele frequency is >5% in GnomAD_exome
Ambry Genetics RCV002433606 SCV002747825 benign Cardiovascular phenotype 2015-12-10 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.
Genetic Services Laboratory, University of Chicago RCV000116386 SCV000150310 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Pharmacogenomics Lab, Chungbuk National University RCV000845576 SCV000889941 drug response Warfarin response 2010-08-31 no assertion criteria provided research In patients receiving warfarin after mechanical valve replacement, A allele carriers of rs1367117 had 8.6 times increased risk of bleeding.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001356976 SCV001552285 uncertain significance not provided no assertion criteria provided clinical testing multiple AR variants in same gene - keep for nowAllele frequency is common in at least one population database (frequency: 33.711% in TwinsUk) based on the frequency threshold of 1.253% for this gene.Variant was observed in a homozygous state in population databases more than expected for disease.
Clinical Genetics, Academic Medical Center RCV000116386 SCV001918625 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000116386 SCV001962868 benign not specified no assertion criteria provided clinical testing

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