ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.1017+565_1017+566del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003318210 SCV004021724 uncertain significance not provided 2023-01-23 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge; No data available from control populations to assess the frequency of this variant
Labcorp Genetics (formerly Invitae), Labcorp RCV003777300 SCV004596142 likely benign Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2024-05-29 criteria provided, single submitter clinical testing

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