ClinVar Miner

Submissions for variant NM_001123383.1(BCOR):c.1791C>T (p.His597=) (rs144606152)

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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 RCV000081812 SCV000113747 benign not specified 2013-11-13 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081812 SCV000150434 benign not specified 2013-01-31 criteria provided, single submitter clinical testing
Invitae RCV000461713 SCV000563092 benign Oculofaciocardiodental syndrome 2017-07-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720930 SCV000851814 benign History of neurodevelopmental disorder 2013-01-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
GeneDx RCV000827068 SCV000968680 benign not provided 2018-05-01 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.

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