ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly) (rs12720854)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000202847 SCV000257689 uncertain significance Familial hypercholesterolemia 1 2015-07-10 criteria provided, single submitter clinical testing
Invitae RCV000229381 SCV000284779 benign not provided 2019-03-02 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000250646 SCV000303955 benign not specified criteria provided, single submitter clinical testing
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000202847 SCV000322851 uncertain significance Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research 2/96 normolipidaemic Portuguese controls
Illumina Clinical Services Laboratory,Illumina RCV000202847 SCV000426993 likely benign Familial hypercholesterolemia 1 2016-06-14 criteria provided, single submitter clinical testing
Robarts Research Institute,Western University RCV000202847 SCV000484821 likely benign Familial hypercholesterolemia 1 2019-08-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000250646 SCV000538308 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ExAC: 1.6% (165/10404) African chromosomes
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000202847 SCV000588447 uncertain significance Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Color RCV000202847 SCV000687277 likely benign Familial hypercholesterolemia 1 2017-07-07 criteria provided, single submitter clinical testing
GeneDx RCV000250646 SCV000730565 likely benign not specified 2018-02-12 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.
Color RCV000771076 SCV000902610 benign Familial hypercholesterolemia 2018-06-29 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000229381 SCV001133432 benign not provided 2019-05-24 criteria provided, single submitter clinical testing
Mendelics RCV000202847 SCV001135623 benign Familial hypercholesterolemia 1 2019-05-28 criteria provided, single submitter clinical testing

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