ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.1017+512C>T

gnomAD frequency: 0.00001  dbSNP: rs890419135
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001423284 SCV001625859 likely benign Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2023-11-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820117 SCV002071227 uncertain significance not specified 2019-10-09 criteria provided, single submitter clinical testing

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