ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.975T>C (p.Cys325=)

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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 RCV003741814 SCV004490778 likely benign Familial hypercholesterolemia 2023-08-28 criteria provided, single submitter clinical testing

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