ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.273G>A (p.Lys91=)

gnomAD frequency: 0.00001  dbSNP: rs1559391394
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001459646 SCV001663494 likely benign Cholestanol storage disease 2025-01-27 criteria provided, single submitter clinical testing

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