ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.10780T>C (p.Trp3594Arg)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Robarts Research Institute, Western University RCV000408771 SCV000484829 uncertain significance Hypercholesterolemia, familial, 1 criteria provided, single submitter clinical testing
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000408771 SCV000588454 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Invitae RCV001837889 SCV000777047 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-01-29 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001255528 SCV001431977 likely benign not specified 2024-03-30 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV001255528 SCV001433395 benign not specified 2020-01-23 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477904 SCV002046105 benign not provided 2022-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002418227 SCV002727669 likely benign Cardiovascular phenotype 2018-12-03 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000408771 SCV000605955 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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