ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.480C>T (p.Thr160=)

gnomAD frequency: 0.00003  dbSNP: rs199640729
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000254047 SCV000306838 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001080911 SCV000554446 benign Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2023-12-27 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000254047 SCV000594910 likely benign not specified 2017-04-12 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255348 SCV002529431 likely benign Hereditary cancer-predisposing syndrome 2021-04-14 criteria provided, single submitter curation

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