ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.515C>T (p.Ala172Val)

gnomAD frequency: 0.00006  dbSNP: rs200753815
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595155 SCV000709147 uncertain significance not provided 2017-06-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001423428 SCV001626007 likely benign Cholestanol storage disease 2025-01-06 criteria provided, single submitter clinical testing

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