ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.3015A>G (p.Leu1005=) (rs1669445)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082488 SCV000114530 benign not specified 2014-06-04 criteria provided, single submitter clinical testing
GeneDx RCV000082488 SCV000170762 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 RCV000082488 SCV000193859 benign not specified 2013-02-19 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000082488 SCV000315681 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000346365 SCV000457282 likely benign Cornelia de Lange Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000086374 SCV000657489 benign Cornelia de Lange syndrome 1 2017-03-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716167 SCV000847004 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
Genetic Services Laboratory, University of Chicago RCV000086374 SCV000118520 benign Cornelia de Lange syndrome 1 no assertion criteria provided not provided Converted during submission to Benign.

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