ClinVar Miner

Submissions for variant NM_001145661.2(GATA2):c.1023_1038dup (p.Thr347fs) (rs1576745270)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788787 SCV000928029 likely pathogenic not provided 2018-10-31 criteria provided, single submitter clinical testing
Molecular Pathology Research Laboratory,SA Pathology RCV001541946 SCV001760581 pathogenic Lymphedema, primary, with myelodysplasia; GATA2 deficiency with susceptibility to MDS/AML 2021-07-06 criteria provided, single submitter curation PVS1, PS4_Supporting, PM2

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.