ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.1032A>G (p.Arg344=)

dbSNP: rs2068635192
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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 RCV001392185 SCV001593824 likely benign Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2021-03-14 criteria provided, single submitter clinical testing
GeneDx RCV004770141 SCV005379073 uncertain significance not provided 2023-11-01 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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