ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.646+4C>T (rs191313794)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000177089 SCV000228911 uncertain significance not provided 2018-07-05 criteria provided, single submitter clinical testing
Invitae RCV001082198 SCV001108466 likely benign Cholestanol storage disease 2020-12-01 criteria provided, single submitter clinical testing
GeneDx RCV000177089 SCV001782418 likely benign not provided 2021-05-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001082198 SCV001462718 uncertain significance Cholestanol storage disease 2019-11-11 no assertion criteria provided clinical testing

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