ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.1317T>G (p.Ser439=)

gnomAD frequency: 0.00001  dbSNP: rs1943767251
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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 RCV002076164 SCV002429851 likely benign Cholestanol storage disease 2022-04-16 criteria provided, single submitter clinical testing

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