ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.3337G>C (p.Asp1113His) (rs12713844)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000203119 SCV000322839 benign Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research 1Hmz + 1Htz/88 non-FH individuals
Color RCV000203119 SCV000687230 likely benign Familial hypercholesterolemia 2017-06-27 criteria provided, single submitter clinical testing
Color RCV000771075 SCV000902608 benign Familial hypercholesterolemias 2017-06-13 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000203119 SCV000257679 uncertain significance Familial hypercholesterolemia 2015-03-06 criteria provided, single submitter clinical testing
GeneDx RCV000247365 SCV000729922 benign not specified 2017-06-06 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.
Iberoamerican FH Network RCV000203119 SCV000748123 benign Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Illumina Clinical Services Laboratory,Illumina RCV000203119 SCV000427110 likely benign Familial hypercholesterolemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000227119 SCV000284764 benign Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 2018-01-23 criteria provided, single submitter clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000247365 SCV000605974 pathogenic not specified no assertion criteria provided research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000247365 SCV000538312 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: High frequency
Laboratory of Genetics and Molecular Cardiology,University of São Paulo RCV000203119 SCV000588427 benign Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
PreventionGenetics RCV000247365 SCV000303940 likely benign not specified criteria provided, single submitter clinical testing
Robarts Research Institute,Western University RCV000203119 SCV000782839 likely benign Familial hypercholesterolemia 2018-01-02 criteria provided, single submitter clinical testing

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