ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.1128C>T (p.Tyr376=)

gnomAD frequency: 0.00001  dbSNP: rs750890699
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000529797 SCV000651487 likely benign Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2024-04-29 criteria provided, single submitter clinical testing
GeneDx RCV001764593 SCV002000768 uncertain significance not provided 2019-07-12 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge
Sema4, Sema4 RCV002256391 SCV002529405 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-16 criteria provided, single submitter curation
Ambry Genetics RCV004975670 SCV005596779 likely benign Inborn genetic diseases 2024-08-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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