ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.4254A>G (p.Pro1418=) (rs55923848)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186639 SCV000170790 benign not specified 2012-12-31 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723887 SCV000228127 uncertain significance not provided 2015-02-16 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000186639 SCV000596060 likely benign not specified 2017-05-26 criteria provided, single submitter clinical testing
Invitae RCV000723887 SCV000771590 likely benign not provided 2019-02-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716113 SCV000846947 likely benign History of neurodevelopmental disorder 2016-06-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign

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