ClinVar Miner

Submissions for variant NM_004366.6(CLCN2):c.221-14_221-4del

dbSNP: rs515726132
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
Invitae RCV002512946 SCV003289830 likely benign not provided 2022-10-19 criteria provided, single submitter clinical testing
OMIM RCV000009603 SCV000029821 uncertain significance Epilepsy, idiopathic generalized, susceptibility to, 11 2009-09-01 no assertion criteria provided literature only
GeneReviews RCV000201804 SCV000256562 uncertain significance Leukoencephalopathy with mild cerebellar ataxia and white matter edema 2015-09-09 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.