ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.13013G>A (p.Ser4338Asn) (rs1042034)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000116382 SCV000303930 benign not specified criteria provided, single submitter clinical testing
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000256262 SCV000322863 benign Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Illumina Clinical Services Laboratory,Illumina RCV000284555 SCV000426902 likely benign Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000256262 SCV000426903 likely benign Familial hypercholesterolemia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000116382 SCV000519182 benign not specified 2016-09-30 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 of Genetics and Molecular Cardiology,University of São Paulo RCV000256262 SCV000588466 benign Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Color RCV000256262 SCV000687203 benign Familial hypercholesterolemia 2017-06-27 criteria provided, single submitter clinical testing
Color RCV000771025 SCV000902521 benign Familial hypercholesterolemias 2017-07-24 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116382 SCV000150306 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000116382 SCV000605951 benign not specified no assertion criteria provided research
Pharmacogenomics Lab,Chungbuk National University RCV000845573 SCV000889938 drug response Warfarin response 2010-08-31 no assertion criteria provided research

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