ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.1073A>G (p.Asn358Ser)

gnomAD frequency: 0.00002  dbSNP: rs201947293
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
GeneDx RCV001718900 SCV000720730 likely benign not provided 2021-06-14 criteria provided, single submitter clinical testing
Invitae RCV001034135 SCV001197460 benign Early infantile epileptic encephalopathy with suppression bursts 2023-12-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001809697 SCV002056629 benign Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001718900 SCV003822684 uncertain significance not provided 2021-05-14 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.