ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.375A>C (p.Pro125=)

gnomAD frequency: 0.00008  dbSNP: rs763281230
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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 RCV000466822 SCV000554429 likely benign Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2023-12-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821306 SCV002071243 likely benign not specified 2021-08-06 criteria provided, single submitter clinical testing

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