ClinVar Miner

Submissions for variant NM_174936.3(PCSK9):c.2037C>A (p.Cys679Ter) (rs28362286)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000531428 SCV000644868 benign Familial hypercholesterolemia 3 2019-12-31 criteria provided, single submitter clinical testing
Color RCV000771132 SCV000902915 benign Familial hypercholesterolemia 2017-05-24 criteria provided, single submitter clinical testing
OMIM RCV000003011 SCV000023169 association Low density lipoprotein cholesterol level quantitative trait locus 1 2006-03-23 no assertion criteria provided literature only
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000508694 SCV000606718 pathogenic Hypocholesterolemia no assertion criteria provided research

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