ClinVar Miner

Submissions for variant NM_012463.4(ATP6V0A2):c.1936-7C>T

gnomAD frequency: 0.00028  dbSNP: rs370135665
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001078731 SCV000761747 likely benign ALG9 congenital disorder of glycosylation 2023-12-28 criteria provided, single submitter clinical testing
GeneDx RCV000841760 SCV000983743 likely benign not provided 2020-04-06 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.