ClinVar Miner

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

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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 RCV000712449 SCV000651810 benign not provided 2019-02-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712449 SCV000842945 likely benign not provided 2018-03-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717983 SCV000848844 likely benign History of neurodevelopmental disorder 2017-01-17 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.