ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2178del (p.Val727fs)

dbSNP: 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 Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Robarts Research Institute, Western University RCV000237725 SCV000782937 pathogenic Hypercholesterolemia, familial, 1 2018-01-02 criteria provided, single submitter clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000237725 SCV000606614 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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