ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.1356C>T (p.Ile452=)

dbSNP: rs1576744250
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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 RCV000870641 SCV001012162 likely benign Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2023-08-03 criteria provided, single submitter clinical testing
GeneDx RCV004588313 SCV005079834 uncertain significance not provided 2023-10-05 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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