ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.1021del (p.Ala341fs)

dbSNP: rs1576745308
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
PreventionGenetics, part of Exact Sciences RCV000984816 SCV001132697 likely pathogenic not provided 2016-05-16 criteria provided, single submitter clinical testing
Molecular Pathology Research Laboratory, SA Pathology RCV001542157 SCV001760825 pathogenic Deafness-lymphedema-leukemia syndrome; 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.