ClinVar Miner

Submissions for variant NM_003680.3(YARS1):c.1008G>A (p.Leu336=) (rs140232925)

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
GeneDx RCV000861108 SCV000534241 likely benign not provided 2018-10-29 criteria provided, single submitter clinical testing
Invitae RCV001002454 SCV001001331 benign Charcot-Marie-Tooth disease, dominant intermediate C 2020-04-30 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000861108 SCV001146658 benign not provided 2019-01-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001002454 SCV001160396 likely benign Charcot-Marie-Tooth disease, dominant intermediate C 2018-07-31 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.