ClinVar Miner

Submissions for variant FH Cape Town 2

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000003889 SCV000295093 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000003889 SCV000588529 pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Fundacion Hipercolesterolemia Familiar RCV000003889 SCV000607530 pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
OMIM RCV000003889 SCV000024054 pathogenic Hypercholesterolemia, familial, 1 1988-12-01 no assertion criteria provided literature only
OMIM RCV000575461 SCV000676910 pathogenic FH LEIDEN 1 1988-12-01 no assertion criteria provided literature only

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