ClinVar Miner

Submissions for variant NM_172107.3(KCNQ2):c.1302-18_1302-17insTGTCTGCC

dbSNP: rs1555854852
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
GeneDx RCV001657965 SCV001875414 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
GeneDx RCV000187832 SCV000241430 benign not specified 2013-11-26 flagged submission clinical testing The variant is found in INFANT-EPI,EPILEPSY panel(s).

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.