ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1551C>T (p.Ser517=)

dbSNP: rs2077421219
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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 RCV002134176 SCV002459767 likely benign Familial hypercholesterolemia 2021-03-23 criteria provided, single submitter clinical testing

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