ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.89G>A (p.Cys30Tyr) (rs1555940536)

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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000518084 SCV000616331 likely pathogenic Early infantile epileptic encephalopathy 2 2017-10-24 criteria provided, single submitter research
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV000518084 SCV001245196 uncertain significance Early infantile epileptic encephalopathy 2 2020-02-14 criteria provided, single submitter clinical testing

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.