ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1626A>G (p.Gly542=) (rs537431085)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001712235 SCV000523126 likely benign not provided 2020-04-20 criteria provided, single submitter clinical testing
Invitae RCV000464297 SCV000563656 benign Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 2020-11-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718097 SCV000848959 likely benign Seizures 2016-08-17 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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.