ClinVar Miner

Submissions for variant NM_001145661.2(GATA2):c.526A>C (p.Thr176Pro) (rs1553770978)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Immunology,University Hospital Southampton NHSFT RCV000601326 SCV000583983 likely pathogenic Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency criteria provided, single submitter clinical testing

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