ClinVar Miner

Submissions for variant NM_001123385.2(BCOR):c.2125G>A (p.Gly709Ser) (rs398124312)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000081813 SCV000113748 uncertain significance not provided 2013-01-04 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000766092 SCV000897567 uncertain significance Lenz microphthalmia syndrome; Oculofaciocardiodental syndrome 2018-10-31 criteria provided, single submitter clinical testing

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