ClinVar Miner

Submissions for variant NM_001123383.1(BCOR):c.2035G>A (p.Val679Ile) (rs144722432)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193574 SCV000246786 uncertain significance not specified 2014-08-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000193574 SCV000336859 likely benign not specified 2015-11-18 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000625946 SCV000746538 likely pathogenic Lenz microphthalmia syndrome 2017-12-03 criteria provided, single submitter clinical testing
Invitae RCV000640962 SCV000762567 benign Oculofaciocardiodental syndrome 2017-12-20 criteria provided, single submitter clinical testing

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