ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2412C>T (p.Ile804=)

gnomAD frequency: 0.00001  dbSNP: rs559452456
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
CeGaT Center for Human Genetics Tuebingen RCV000999285 SCV001155847 likely benign not provided 2018-12-01 criteria provided, single submitter clinical testing
Invitae RCV001452485 SCV001656152 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2023-11-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271160 SCV002555481 likely benign Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271161 SCV002555482 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 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.