ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.5741A>G (p.Asn1914Ser) (rs1801699)

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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 RCV000202840 SCV000257683 benign Familial hypercholesterolemia 2015-02-05 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000248443 SCV000303943 benign not specified criteria provided, single submitter clinical testing
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000202840 SCV000322845 likely benign Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research 2/101 non-FH individuals
Illumina Clinical Services Laboratory,Illumina RCV000202840 SCV000427065 likely benign Familial hypercholesterolemia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000248443 SCV000521122 benign not specified 2016-11-21 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 for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000248443 SCV000538317 likely 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: Frequency in 1000Genomes: 34/2178=1.5%
Invitae RCV000465516 SCV000554804 benign Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 2017-08-22 criteria provided, single submitter clinical testing
Laboratory of Genetics and Molecular Cardiology,University of São Paulo RCV000202840 SCV000588438 likely benign Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Color RCV000202840 SCV000687249 benign Familial hypercholesterolemia 2017-06-27 criteria provided, single submitter clinical testing
Robarts Research Institute,Western University RCV000202840 SCV000782866 benign Familial hypercholesterolemia 2018-01-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759461 SCV000888788 benign not provided 2018-07-11 criteria provided, single submitter clinical testing
Color RCV000776015 SCV000910558 benign Familial hypercholesterolemias 2017-08-04 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000759461 SCV000987667 benign not provided criteria provided, single submitter clinical testing

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