ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.189C>T (p.Pro63=)

gnomAD frequency: 0.00007  dbSNP: rs763735447
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001081557 SCV001014123 likely benign Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2021-12-17 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000872327 SCV001132720 likely benign not provided 2019-01-23 criteria provided, single submitter clinical testing
Sema4,Sema4 RCV002255561 SCV002529424 likely benign Hereditary cancer-predisposing syndrome 2021-03-13 criteria provided, single submitter curation

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