ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.388G>A (p.Glu130Lys)

dbSNP: rs864321710
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
NeuroMeGen, Hospital Clinico Santiago de Compostela RCV000203592 SCV000258973 pathogenic Developmental and epileptic encephalopathy, 7 no assertion criteria provided clinical testing
Channelopathy-Associated Epilepsy Research Center RCV003315334 SCV004015054 not provided Complex neurodevelopmental disorder no assertion 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.