ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.648dup (p.Asp217Ter) (rs875989903)

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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 RCV000211601 SCV000294849 pathogenic Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Robarts Research Institute,Western University RCV000211601 SCV000484804 likely pathogenic Familial hypercholesterolemia 1 criteria provided, single submitter clinical testing
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000211601 SCV000583713 pathogenic Familial hypercholesterolemia 1 2017-03-30 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV001256904 SCV001433409 pathogenic not provided 2019-02-26 criteria provided, single submitter clinical testing
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital RCV000211601 SCV000268573 pathogenic Familial hypercholesterolemia 1 2014-08-14 no assertion criteria provided clinical testing

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