ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.2178del (p.Val727fs) (rs879255156)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237725 SCV000295908 pathogenic Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000237725 SCV000606614 pathogenic Familial hypercholesterolemia no assertion criteria provided research
Robarts Research Institute,Western University RCV000237725 SCV000782937 pathogenic Familial hypercholesterolemia 2018-01-02 criteria provided, single submitter clinical testing

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