ClinVar Miner

Submissions for variant NC_000023.11:g.18419574_18504791del

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
Undiagnosed Diseases Network, NIH RCV001270626 SCV001450925 pathogenic Developmental and epileptic encephalopathy, 2 2020-02-07 no assertion criteria provided clinical testing This mosaic deletion was present in 24% of reads in a male patient.

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.