ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1046C>T (p.Thr349Ile)

dbSNP: rs2080906453
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
Institute of Human Genetics, University of Leipzig Medical Center RCV001823009 SCV002072514 likely pathogenic Developmental and epileptic encephalopathy, 7 2022-01-03 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed)._x000D_ Criteria applied: PS2_MOD, PS4_SUP, PM2_SUP, PM5_SUP, PP2, PP3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252032 SCV001427779 pathogenic Developmental and epileptic encephalopathy, 1 2019-01-01 no assertion criteria provided 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.