ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.10780T>C (p.Trp3594Arg)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Robarts Research Institute,Western University RCV000408771 SCV000484829 uncertain significance Familial hypercholesterolemia 1 criteria provided, single submitter clinical testing
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000408771 SCV000588454 uncertain significance Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Invitae RCV000655122 SCV000777047 benign Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 2019-12-31 criteria provided, single submitter clinical testing
Color RCV000776113 SCV000910986 likely benign Familial hypercholesterolemia 2017-07-10 criteria provided, single submitter clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000408771 SCV000605955 pathogenic Familial hypercholesterolemia 1 no assertion criteria provided research

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