ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.693C>G (p.Tyr231Ter)

dbSNP: rs879253834
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
University Children's Hospital, University of Zurich RCV000236100 SCV000262792 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency criteria provided, single submitter clinical testing
Counsyl RCV000236100 SCV000791123 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2017-04-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000236100 SCV000893723 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2018-10-31 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.