ClinVar Miner

Submissions for variant NM_001123385.2(BCOR):c.2514C>A (p.Pro838=) (rs147497014)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000723847 SCV000202254 uncertain significance not provided 2013-11-26 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000192633 SCV000246788 likely benign not specified 2015-11-17 criteria provided, single submitter clinical testing
Invitae RCV001082929 SCV001002496 benign Oculofaciocardiodental syndrome 2020-08-31 criteria provided, single submitter clinical testing

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