ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.1965G>T (p.Glu655Asp) (rs80358350)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000146528 SCV000170760 benign not specified 2014-01-13 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 RCV000146528 SCV000193822 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000146528 SCV000203093 benign not specified 2014-02-28 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000146528 SCV000315676 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000316003 SCV000457273 likely benign Cornelia de Lange Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000146528 SCV000614203 benign not specified 2017-02-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716856 SCV000847700 benign History of neurodevelopmental disorder 2016-08-30 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
Invitae RCV000872824 SCV001014702 benign not provided 2018-06-29 criteria provided, single submitter clinical testing

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