ClinVar Miner

Submissions for variant NM_000175.5(GPI):c.489A>G (p.Gly163=)

gnomAD frequency: 0.14862  dbSNP: rs1801015
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244239 SCV000302863 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001283060 SCV000603856 benign Hemolytic anemia due to glucophosphate isomerase deficiency 2023-11-28 criteria provided, single submitter clinical testing
GeneDx RCV001618367 SCV001846887 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Invitae RCV001618367 SCV002401318 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001283060 SCV002804199 benign Hemolytic anemia due to glucophosphate isomerase deficiency 2022-04-04 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.