ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.40C>T (p.Pro14Ser)

gnomAD frequency: 0.00001  dbSNP: rs749214277
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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 RCV000807890 SCV000947968 likely benign Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2024-01-06 criteria provided, single submitter clinical testing
GeneDx RCV004721624 SCV005326866 uncertain significance not provided 2023-11-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in an individual with aplastic anemia as well as an unaffected sibling (PMID: 35140362); This variant is associated with the following publications: (PMID: 35140362, 32682410)

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