ClinVar Miner

Submissions for variant NM_003159.2(CDKL5):c.-265C>G

gnomAD frequency: 0.00223  dbSNP: rs587783397
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
Genetic Services Laboratory, University of Chicago RCV000145511 SCV000192599 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
RettBASE RCV000145511 SCV000222261 benign not specified 2014-05-09 no assertion criteria provided curation Benign variation, found in normal male controls

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.