ClinVar Miner

Submissions for variant NM_000175.5(GPI):c.762G>A (p.Lys254=)

gnomAD frequency: 0.09803  dbSNP: rs1864139
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000508239 SCV000603855 benign Hemolytic anemia due to glucophosphate isomerase deficiency 2023-11-29 criteria provided, single submitter clinical testing
GeneDx RCV001683538 SCV001898663 benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Invitae RCV001683538 SCV002396975 benign not provided 2024-01-29 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.