ClinVar Miner

Submissions for variant NM_000402.4(G6PD):c.727G>T (p.Val243Leu) (rs137852326)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Courtagen Diagnostics Laboratory,Courtagen Life Sciences RCV000066251 SCV000236517 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2014-08-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000790819 SCV000231599 pathogenic not provided 2012-08-21 criteria provided, single submitter clinical testing
OMIM RCV000011110 SCV000031337 other G6PD GASTONIA 2017-05-24 no assertion criteria provided literature only
OMIM RCV000011111 SCV000031338 other G6PD MARION 2017-05-24 no assertion criteria provided literature only
OMIM RCV000011112 SCV000031339 other G6PD MINNESOTA 2017-05-24 no assertion criteria provided literature only
OMIM RCV000066251 SCV000105928 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 1990-12-01 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.