ClinVar Miner

Submissions for variant NM_000175.5(GPI):c.1366C>G (p.Pro456Ala)

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
Revvity Omics, Revvity RCV003135436 SCV003815121 uncertain significance Hemolytic anemia due to glucophosphate isomerase deficiency 2023-09-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003548984 SCV004267575 benign not provided 2023-12-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003135436 SCV004563255 uncertain significance Hemolytic anemia due to glucophosphate isomerase deficiency 2023-10-13 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.