ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.582C>T (p.Ala194=)

gnomAD frequency: 0.00001  dbSNP: rs748710414
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001467502 SCV001671527 likely benign Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2023-06-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003426121 SCV004155477 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing GATA2: BP4, BP7

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