ClinVar Miner

Submissions for variant NM_020745.4(AARS2):c.2255+35C>A

dbSNP: rs325002
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
Genome-Nilou Lab RCV001544125 SCV001763102 benign Combined oxidative phosphorylation defect type 8 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001544126 SCV001763103 benign Leukoencephalopathy, progressive, with ovarian failure 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001713123 SCV001940700 benign not provided 2018-06-23 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.