ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.132C>T (p.Pro44=)

dbSNP: rs933195273
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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) RCV000730135 SCV000857850 uncertain significance not provided 2017-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001506114 SCV001711029 likely benign Cholestanol storage disease 2023-07-21 criteria provided, single submitter clinical testing

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