ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.2469A>G (p.Lys823=) (rs293756)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082484 SCV000114526 benign not specified 2014-06-04 criteria provided, single submitter clinical testing
GeneDx RCV000082484 SCV000170761 benign not specified 2014-04-28 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.
Genetic Services Laboratory, University of Chicago RCV000082484 SCV000193841 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000082484 SCV000315680 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000267998 SCV000457278 likely benign Cornelia de Lange Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000541253 SCV000657487 benign Cornelia de Lange syndrome 1 2017-03-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716158 SCV000846995 benign History of neurodevelopmental disorder 2016-03-16 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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