ClinVar Miner

Submissions for variant NM_003042.4(SLC6A1):c.912C>T (p.Ile304=) (rs35450949)

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
Invitae RCV001080186 SCV000655710 benign Myoclonic-atonic epilepsy 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717815 SCV000848675 likely benign History of neurodevelopmental disorder 2017-01-06 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign)
Athena Diagnostics Inc RCV000544573 SCV001145702 benign not provided 2019-01-30 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.