ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2548-23C>T

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000497047 SCV000588672 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
GENinCode PLC RCV004584732 SCV005073999 benign Familial hypercholesterolemia 2024-05-23 criteria provided, single submitter clinical testing

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