ClinVar Miner

Submissions for variant NM_001353921.2(ARHGEF9):c.1113C>T (p.Gly371=) (rs56375542)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000276846 SCV000337840 uncertain significance not provided 2015-11-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715592 SCV000846421 likely benign History of neurodevelopmental disorder 2016-05-02 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign)
Invitae RCV001088789 SCV001010091 likely benign Early infantile epileptic encephalopathy 8 2019-12-31 criteria provided, single submitter clinical testing

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.