ClinVar Miner

Submissions for variant NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg) (rs137852317)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000790772 SCV000225262 pathogenic not provided 2013-10-18 criteria provided, single submitter clinical testing
OMIM RCV000011091 SCV000031318 other G6PD SANTIAGO DE CUBA 2017-05-24 no assertion criteria provided literature only
OMIM RCV000066233 SCV000105926 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 1989-07-25 no assertion criteria provided literature only

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.