ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.2886-11_2886-10del

gnomAD frequency: 0.00128  dbSNP: rs557801982
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
Invitae RCV000877711 SCV001020488 benign Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2024-01-12 criteria provided, single submitter clinical testing
GeneDx RCV001595051 SCV001829650 likely benign not provided 2023-01-31 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Genome-Nilou Lab RCV003338834 SCV004050332 benign Aicardi-Goutieres syndrome 6 2023-04-11 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.