ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.6726G>A (p.Glu2242=)

gnomAD frequency: 0.00002  dbSNP: rs745750589
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001419226 SCV001621473 likely benign Early infantile epileptic encephalopathy with suppression bursts 2021-07-06 criteria provided, single submitter clinical testing
GeneDx RCV000636480 SCV001899683 benign not provided 2019-11-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001809710 SCV002056713 benign Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000636480 SCV004184830 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing SPTAN1: BP4, BP7

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.