ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.314-20C>T

gnomAD frequency: 0.00002  dbSNP: rs752849770
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002215733 SCV002373680 likely benign Familial hypercholesterolemia 2023-12-19 criteria provided, single submitter clinical testing

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