ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.1594C>T (p.Arg532Trp) (rs13306194)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000407187 SCV000687212 benign Familial hypercholesterolemia 2017-06-26 criteria provided, single submitter clinical testing
Color RCV000771071 SCV000902595 benign Familial hypercholesterolemias 2017-06-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000337679 SCV000427152 likely benign Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000407187 SCV000427153 likely benign Familial hypercholesterolemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000549025 SCV000659271 benign Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 2017-07-15 criteria provided, single submitter clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000243074 SCV000605979 benign not specified no assertion criteria provided research
Laboratory of Genetics and Molecular Cardiology,University of São Paulo RCV000407187 SCV000588418 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Pharmacogenomics Lab,Chungbuk National University RCV000845575 SCV000889940 drug response Warfarin response 2010-08-31 no assertion criteria provided research
PreventionGenetics RCV000243074 SCV000303933 likely benign not specified criteria provided, single submitter clinical testing
Robarts Research Institute,Western University RCV000407187 SCV000782820 likely benign Familial hypercholesterolemia 2018-01-02 criteria provided, single submitter clinical testing

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