ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1662G>T (p.Lys554Asn)

dbSNP: rs267607198
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 RCV002292456 SCV002585893 pathogenic not provided 2022-09-01 criteria provided, single submitter clinical testing KCNQ2: PS3, PM2, PS4:Moderate, PP2, PP3, PP4
OMIM RCV000007813 SCV000028015 pathogenic Seizures, benign familial neonatal, 1 2004-07-13 no assertion criteria provided literature only
GeneReviews RCV000678105 SCV000041747 pathogenic Seizures, benign familial neonatal, 2 2016-03-31 no assertion criteria provided literature only Uncertain severity. 2/4 therapy-resistant seizures and intellectual disability.
OMIM RCV001260874 SCV001437970 pathogenic Developmental and epileptic encephalopathy, 7 2004-07-13 no assertion criteria provided literature only

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.