ClinVar Miner

Submissions for variant NM_001145661.2(GATA2):c.1017+513_1017+540del (rs1553770655)

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
Molecular Pathology Research Laboratory,SA Pathology RCV001541945 SCV001760580 likely pathogenic Lymphedema, primary, with myelodysplasia; GATA2 deficiency with susceptibility to MDS/AML 2021-07-06 criteria provided, single submitter curation PS3_Supporting, PS4_Moderate, PM1, PM2
OMIM RCV000032787 SCV000056555 pathogenic Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 2012-10-01 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.