ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1326_1327delinsAT (p.Met443Leu)

dbSNP: rs1554773537
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000650665 SCV000772512 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2025-01-17 criteria provided, single submitter clinical testing
GeneDx RCV001551495 SCV001772017 likely benign not provided 2023-03-20 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Genome-Nilou Lab RCV002270930 SCV002555330 likely benign Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270931 SCV002555332 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.