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: 3
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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 2023-11-17 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

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