ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.-39-26T>A

gnomAD frequency: 0.00764  dbSNP: rs144458425
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
GeneDx RCV001564685 SCV001787885 likely benign not provided 2020-02-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832768 SCV002075453 benign Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency 2019-10-18 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.