ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.643C>A (p.Arg215Ser)

dbSNP: rs764042910
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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 RCV000238132 SCV000294841 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Iberoamerican FH Network RCV000238132 SCV000748168 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research

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