ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2673G>A (p.Gln891=) (rs373448935)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000169961 SCV000226770 likely benign not specified 2016-04-28 criteria provided, single submitter clinical testing
Invitae RCV000539050 SCV000639473 likely benign Early infantile epileptic encephalopathy 2; Angelman syndrome-like 2019-12-31 criteria provided, single submitter clinical testing
RettBASE RCV000169961 SCV000222262 benign not specified 2014-05-15 no assertion criteria provided curation

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.