ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.7830G>C (p.Val2610=) (rs115668015)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146734 SCV000194053 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000146734 SCV000332911 benign not specified 2015-07-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000280349 SCV000457304 likely benign Cornelia de Lange Syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000146734 SCV000518306 benign not specified 2016-04-19 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.
Athena Diagnostics Inc RCV000146734 SCV000614206 benign not specified 2017-03-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715418 SCV000846247 likely benign History of neurodevelopmental disorder 2016-04-15 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

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