ClinVar Miner

Submissions for variant NM_000291.4(PGK1):c.320C>T (p.Ala107Val)

gnomAD frequency: 0.00001  dbSNP: rs1569550806
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001803589 SCV002049271 uncertain significance Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 2020-12-11 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.