ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.1018-5C>T

gnomAD frequency: 0.00002  dbSNP: rs769196688
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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 RCV000474442 SCV000554430 likely benign Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2023-10-30 criteria provided, single submitter clinical testing
GeneDx RCV003328587 SCV004035854 uncertain significance not provided 2023-03-17 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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