ClinVar Miner

Submissions for variant NM_033109.5(PNPT1):c.1231G>A (p.Val411Ile)

dbSNP: rs551750608
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
GeneDx RCV001588589 SCV001824233 likely benign not provided 2021-04-01 criteria provided, single submitter clinical testing
Invitae RCV001588589 SCV002352226 benign not provided 2023-12-19 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001588589 SCV003809128 uncertain significance not provided 2019-03-18 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.