ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.1038C>T (p.Gly346=)

gnomAD frequency: 0.00001  dbSNP: rs1175250743
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000553013 SCV000651483 likely benign Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2024-01-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003900219 SCV004717808 likely benign GATA2-related disorder 2020-10-06 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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