ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1186+41T>A

dbSNP: rs536387604
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000238321 SCV000295270 likely benign Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only

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