ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.2772C>T (p.Tyr924=) (rs200182626)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188235 SCV000241843 benign not specified 2014-08-28 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 RCV000188235 SCV000248283 uncertain significance not specified 2015-04-03 criteria provided, single submitter clinical testing
Invitae RCV000727636 SCV000562382 benign not provided 2019-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719723 SCV000850593 likely benign History of neurodevelopmental disorder 2017-04-13 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727636 SCV000854919 uncertain significance not provided 2018-04-06 criteria provided, single submitter clinical testing

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