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
LDLR-LOVD, British Heart Foundation RCV000237825 SCV000295348 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
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
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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