ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.1575A>G (p.Arg525=) (rs201941844)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000717983 SCV000848844 likely benign History of neurodevelopmental disorder 2017-01-17 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 RCV000712449 SCV000842945 likely benign not provided 2018-03-27 criteria provided, single submitter clinical testing
GeneDx RCV000127241 SCV000170796 benign not specified 2013-05-13 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 RCV000127241 SCV000248274 uncertain significance not specified 2015-01-30 criteria provided, single submitter clinical testing
Invitae RCV000525506 SCV000651810 benign Pitt-Hopkins-like syndrome 2 2017-11-09 criteria provided, single submitter clinical testing

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