ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.1371G>A (p.Thr457=)

dbSNP: rs763539605
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000951447 SCV001097848 likely benign Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2023-09-22 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818972 SCV002067962 likely benign not specified 2021-11-30 criteria provided, single submitter clinical testing

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