ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2389+14G>A

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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 RCV000238567 SCV000295978 likely benign Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000238567 SCV000588659 uncertain significance Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research

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