ClinVar Miner

Submissions for variant FH London 1

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000238262 SCV000295706 pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000238262 SCV000588614 pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Fundacion Hipercolesterolemia Familiar RCV000238262 SCV000607646 pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
OMIM RCV000238262 SCV000024075 pathogenic Hypercholesterolemia, familial, 1 1988-03-01 no assertion criteria provided literature only

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