ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.1143+13C>T

gnomAD frequency: 0.00002  dbSNP: rs112111696
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000984824 SCV001132706 likely benign not provided 2016-05-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002067564 SCV002360152 likely benign Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2024-11-16 criteria provided, single submitter clinical testing

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