ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.2940C>G (p.Ala980=)

dbSNP: rs1574664203
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003768785 SCV001047287 likely benign Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2023-11-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000902847 SCV004147135 uncertain significance not provided 2022-09-01 criteria provided, single submitter clinical testing SCN2A: PM2:Supporting, BP4

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.