ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.48C>T (p.Ala16=)

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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 RCV003613497 SCV004457821 likely benign Cholestanol storage disease 2023-04-25 criteria provided, single submitter clinical testing

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