ClinVar Miner

Submissions for variant NM_031407.7(HUWE1):c.12573C>G (p.Pro4191=) (rs140734968)

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
Genetic Services Laboratory, University of Chicago RCV000117243 SCV000151416 uncertain significance not provided 2013-06-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718326 SCV000849188 benign History of neurodevelopmental disorder 2017-03-27 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000117243 SCV001046878 benign not provided 2018-03-06 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.