ClinVar Miner

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

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics 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 Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Illumina Clinical Services Laboratory,Illumina RCV000324495 SCV000427186 likely benign Hypobetalipoproteinemia, familial, 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 Clinical Services Laboratory,Illumina RCV001094606 SCV000427187 likely benign Familial hypercholesterolemia 2 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 Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Color Health, Inc RCV000256320 SCV000687224 benign Familial hypercholesterolemia 1 2017-06-26 criteria provided, single submitter clinical testing
Color Health, Inc RCV000771030 SCV000902527 benign Familial hypercholesterolemia 2017-06-22 criteria provided, single submitter clinical testing
Invitae RCV001519538 SCV001728419 benign Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 2020-12-06 criteria provided, single submitter clinical testing
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.

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