ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.62A>G (p.Glu21Gly) (rs587783406)

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 RCV000145546 SCV000192639 likely pathogenic Early infantile epileptic encephalopathy 2 2013-02-08 criteria provided, single submitter clinical testing
RettBASE RCV000145546 SCV000222359 pathogenic Early infantile epileptic encephalopathy 2 2014-03-13 no assertion criteria provided curation Conserved amino acid, SIFT, polyphen2, mutation taster predictions all deleterious

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.