ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1083+20T>C

gnomAD frequency: 0.00356  dbSNP: rs200148994
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 RCV001522697 SCV000524955 benign not provided 2018-03-14 criteria provided, single submitter clinical testing
Invitae RCV001522697 SCV001732285 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488924 SCV002795090 likely benign Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2021-10-04 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.