ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.1185T>C (p.Thr395=)

gnomAD frequency: 0.00001  dbSNP: rs771739064
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000463795 SCV000554440 likely benign Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2023-11-21 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255402 SCV002529410 likely benign Hereditary cancer-predisposing syndrome 2021-04-08 criteria provided, single submitter curation
CeGaT Center for Human Genetics Tuebingen RCV003424022 SCV004155476 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing GATA2: BP4, BP7

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.