ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.9880T>C (p.Ser3294Pro)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000242178 SCV000303956 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001094691 SCV000426992 likely benign Familial hypercholesterolemia 2 2018-04-16 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.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000427146 SCV000511194 benign not provided 2017-01-23 criteria provided, single submitter clinical testing
Invitae RCV001082814 SCV000554820 benign Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 2019-12-31 criteria provided, single submitter clinical testing
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000368693 SCV000588448 uncertain significance Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
GeneDx RCV000242178 SCV000730564 benign not specified 2018-01-04 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.
Robarts Research Institute,Western University RCV000368693 SCV000782902 likely benign Familial hypercholesterolemia 1 2018-01-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000427146 SCV000887574 benign not provided 2018-06-29 criteria provided, single submitter clinical testing
Color RCV000776046 SCV000910655 benign Familial hypercholesterolemia 2017-07-07 criteria provided, single submitter clinical testing

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