ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.1435C>A (p.Arg479Ser)

dbSNP: rs72551322
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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 RCV001951410 SCV002239664 pathogenic Cholestanol storage disease 2021-08-31 criteria provided, single submitter clinical testing

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