ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.1143+9G>A

gnomAD frequency: 0.00004  dbSNP: rs533617078
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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 RCV001084318 SCV000771337 likely benign Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2023-11-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000649508 SCV001132707 likely benign not provided 2018-12-12 criteria provided, single submitter clinical testing

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