ClinVar Miner

Submissions for variant NM_000175.5(GPI):c.1498G>A (p.Val500Ile)

gnomAD frequency: 0.00001  dbSNP: rs552424309
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
Baylor Genetics RCV001333273 SCV001525807 uncertain significance Hemolytic anemia due to glucophosphate isomerase deficiency 2018-05-09 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Revvity Omics, Revvity RCV001333273 SCV003815118 uncertain significance Hemolytic anemia due to glucophosphate isomerase deficiency 2021-02-28 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003481075 SCV004224604 uncertain significance not provided 2022-08-03 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.