ClinVar Miner

Submissions for variant NM_000298.6(PKLR):c.224T>C (p.Leu75Pro)

dbSNP: rs2148218886
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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001729977 SCV001976673 likely pathogenic Pyruvate kinase deficiency of red cells 2021-10-01 criteria provided, single submitter clinical testing PM1, PM2, PP2, PP3

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.