ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.557dup (p.Leu187fs)

dbSNP: rs879254573
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV000508900 SCV001934489 pathogenic Hypercholesterolemia, familial, 1 2021-03-19 criteria provided, single submitter clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000508900 SCV000606159 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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