ClinVar Miner

Submissions for variant NM_025150.5(TARS2):c.968T>G (p.Phe323Cys)

gnomAD frequency: 0.00002  dbSNP: rs760208518
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV002226780 SCV002505811 uncertain significance Failure to thrive; Congenital blindness; Spastic hemiparesis 2021-08-01 criteria provided, single submitter clinical testing
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV001527458 SCV001738508 likely pathogenic Combined oxidative phosphorylation defect type 21 no assertion criteria provided clinical testing
OMIM RCV001527458 SCV002098046 pathogenic Combined oxidative phosphorylation defect type 21 2022-02-18 no assertion criteria provided literature only
Houlden Lab, UCL Institute of Neurology RCV001527458 SCV003035506 pathogenic Combined oxidative phosphorylation defect type 21 no assertion criteria provided research

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.