ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1295T>C (p.Leu432Pro)

dbSNP: rs879254855
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II RCV000237825 SCV001653632 likely pathogenic Hypercholesterolemia, familial, 1 2021-05-24 criteria provided, single submitter clinical testing
LDLR-LOVD, British Heart Foundation RCV000237825 SCV000295348 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000237825 SCV000606384 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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