ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.1994_1997del (p.Lys665fs)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetic Diagnosis and Therapy Center, Fujian Medical University RCV003333247 SCV003853245 pathogenic Developmental and epileptic encephalopathy, 2 2023-02-14 criteria provided, single submitter clinical testing This variant is classified as pathogenic according to the ACMG guidelines (P: PVS1+PS2+PM2).

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.