ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.213C>T (p.Ser71=)

gnomAD frequency: 0.00005  dbSNP: rs759513417
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000474283 SCV000554427 likely benign Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2023-12-01 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255400 SCV002529426 likely benign Hereditary cancer-predisposing syndrome 2020-11-16 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV003899937 SCV004717390 likely benign GATA2-related disorder 2022-09-09 criteria provided, single submitter 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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