ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.326G>C (p.Cys109Ser)

dbSNP: rs121908042
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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 RCV000003941 SCV000294632 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
OMIM RCV000003941 SCV000024106 pathogenic Hypercholesterolemia, familial, 1 2002-05-21 no assertion criteria provided literature only

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