ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.864+17A>T

gnomAD frequency: 0.00019  dbSNP: rs377041776
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079414 SCV000111293 uncertain significance not provided 2012-09-14 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000079414 SCV001715685 uncertain significance not provided 2020-11-17 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000079414 SCV002050155 likely benign not provided 2021-04-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055115 SCV002405873 benign Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2024-01-26 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.