ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1911C>A (p.Ser637=)

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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 RCV003038857 SCV003335064 likely benign Familial hypercholesterolemia 2022-10-21 criteria provided, single submitter clinical testing

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