ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.657T>C (p.Ala219=)

gnomAD frequency: 0.00001  dbSNP: rs886059261
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
Illumina Laboratory Services, Illumina RCV000342627 SCV000448732 uncertain significance Aspartylglucosaminuria 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000342627 SCV001024997 likely benign Aspartylglucosaminuria 2023-11-28 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.