ClinVar Miner

Submissions for variant NM_000298.6(PKLR):c.1676G>C (p.Arg559Pro)

dbSNP: rs1456158956
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV003482048 SCV004226296 likely pathogenic not provided 2023-05-26 criteria provided, single submitter clinical testing PP3, PM2, PM5, PS4_supporting

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.