ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.1311C>T (p.Ala437=)

gnomAD frequency: 0.00001  dbSNP: rs886044581
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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) RCV000309386 SCV000345575 uncertain significance not provided 2016-08-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001408726 SCV001610732 likely benign Cholestanol storage disease 2024-08-28 criteria provided, single submitter clinical testing

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