ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.717C>T (p.Thr239=)

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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 RCV003859887 SCV004662965 likely benign Cholestanol storage disease 2024-03-10 criteria provided, single submitter clinical testing

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