ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.1200G>A (p.Thr400=)

gnomAD frequency: 0.00003  dbSNP: rs532681917
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
CeGaT Center for Human Genetics Tuebingen RCV000997256 SCV001152477 likely benign not provided 2018-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001421295 SCV001623818 likely benign Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2024-07-01 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.