ClinVar Miner

Submissions for variant NM_006567.5(FARS2):c.676C>T (p.His226Tyr)

gnomAD frequency: 0.00004  dbSNP: rs201991648
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
Invitae RCV000549295 SCV000652851 likely benign Combined oxidative phosphorylation defect type 14 2021-11-30 criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000549295 SCV000845687 uncertain significance Combined oxidative phosphorylation defect type 14 2018-06-13 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.