ClinVar Miner

Submissions for variant NM_001135659.2(NRXN1):c.3165C>T (p.Ala1055=) (rs56402642)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000718506 SCV000849370 likely benign History of neurodevelopmental disorder 2016-03-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Athena Diagnostics Inc RCV000710165 SCV000614362 likely benign not provided 2018-06-20 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000710165 SCV000111404 uncertain significance not provided 2017-08-29 criteria provided, single submitter clinical testing
GeneDx RCV000186646 SCV000170809 benign not specified 2013-03-29 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 RCV000186646 SCV000596066 likely benign not specified 2016-12-16 criteria provided, single submitter clinical testing
Invitae RCV000477066 SCV000562381 likely benign Pitt-Hopkins-like syndrome 2 2018-01-02 criteria provided, single submitter clinical testing

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