ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.2051C>G (p.Ser684Ter)

dbSNP: rs2109138909
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
Institute of Human Genetics, University of Leipzig Medical Center RCV002255238 SCV002526690 likely pathogenic Optic atrophy 2022-05-11 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PVS1, PM2_SUP
Institute of Human Genetics, University of Leipzig Medical Center RCV004763346 SCV005368200 pathogenic Autosomal dominant optic atrophy classic form 2022-05-11 criteria provided, single submitter clinical testing Criteria applied: PVS1,PS4_SUP,PM2_SUP

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.