ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1329G>T (p.Trp443Cys) (rs879254867)

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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 RCV000238274 SCV000295372 likely pathogenic Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Robarts Research Institute,Western University RCV000238274 SCV000484760 likely pathogenic Familial hypercholesterolemia 1 criteria provided, single submitter clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000238274 SCV000606397 pathogenic Familial hypercholesterolemia 1 no assertion criteria provided research
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000238274 SCV000733820 pathogenic Familial hypercholesterolemia 1 no assertion criteria provided clinical testing

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