ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.1027A>C (p.Arg343=)

gnomAD frequency: 0.00001  dbSNP: rs1313081073
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002100536 SCV002389645 likely benign Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2021-11-12 criteria provided, single submitter clinical testing

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