ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.2598C>G (p.Arg866=)

gnomAD frequency: 0.00004  dbSNP: rs749389266
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002171350 SCV002429519 likely benign Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2022-08-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002171350 SCV002807689 likely benign Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2021-09-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003339930 SCV004050336 likely 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.