ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.10A>C (p.Lys4Gln)

gnomAD frequency: 0.00131  dbSNP: rs149092606
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 RCV000938792 SCV001084615 benign Aspartylglucosaminuria 2024-01-31 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001251881 SCV001427627 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing
Natera, Inc. RCV000938792 SCV002084901 likely benign Aspartylglucosaminuria 2019-11-11 no assertion criteria provided 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.