ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.1476+20T>C

dbSNP: rs1575207079
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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 RCV002094409 SCV002440313 likely benign Cholestanol storage disease 2024-08-04 criteria provided, single submitter clinical testing

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