ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.3822C>T (p.Ile1274=)

gnomAD frequency: 0.00049  dbSNP: rs143885684
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
GeneDx RCV001698146 SCV000526103 likely benign not provided 2018-04-17 criteria provided, single submitter clinical testing
Invitae RCV000545399 SCV000626741 likely benign Glycogen storage disease type III 2024-01-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000545399 SCV004050069 likely benign Glycogen storage disease type III 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.