ClinVar Miner

Submissions for variant NM_001123385.2(BCOR):c.1650C>T (p.Thr550=) (rs17145653)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000081810 SCV000113745 benign not specified 2012-11-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081810 SCV000150431 benign not specified 2015-09-03 criteria provided, single submitter clinical testing
GeneDx RCV000081810 SCV000518983 benign not specified 2015-12-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000472235 SCV000563096 benign Oculofaciocardiodental syndrome 2020-12-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720973 SCV000851857 likely benign History of neurodevelopmental disorder 2016-05-06 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;In silico models in agreement (benign)

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