ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.1477-3del

dbSNP: rs2105981409
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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 RCV002218026 SCV002360930 benign Cholestanol storage disease 2021-11-22 criteria provided, single submitter clinical testing

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