ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.229+13C>T

gnomAD frequency: 0.00001  dbSNP: rs772223899
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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 RCV002096299 SCV002400114 likely benign Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2023-12-31 criteria provided, single submitter clinical testing

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