ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1892C>A (p.Ala631Asp)

dbSNP: rs879255070
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237384 SCV000295744 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000237384 SCV000606551 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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