ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.818A>G (p.Asn273Ser)

gnomAD frequency: 0.00001  dbSNP: rs1697366709
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
Institute of Human Genetics, University of Leipzig Medical Center RCV001262486 SCV001440384 uncertain significance Developmental and epileptic encephalopathy, 11 2019-01-01 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001814297 SCV002061847 uncertain significance not provided 2021-04-30 criteria provided, single submitter clinical testing PM2

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.