ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1783C>A (p.Arg595=)

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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 RCV003582558 SCV004272388 likely benign Familial hypercholesterolemia 2023-06-16 criteria provided, single submitter clinical testing

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