ClinVar Miner

Submissions for variant NM_017646.6(TRIT1):c.33C>T (p.Pro11=)

gnomAD frequency: 0.45704  dbSNP: rs3845570
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
Genome-Nilou Lab RCV001838952 SCV002098801 benign Combined oxidative phosphorylation deficiency 35 2021-09-10 criteria provided, single submitter clinical testing
Invitae RCV002074397 SCV002421322 benign not provided 2024-02-01 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.