ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.519C>T (p.Cys173=)

dbSNP: rs769318035
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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 RCV001403720 SCV001605598 likely benign Familial hypercholesterolemia 2022-10-31 criteria provided, single submitter clinical testing

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