ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.839del (p.Pro280fs) (rs1576748366)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network,NIH RCV000787953 SCV000926974 pathogenic Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 2018-11-27 criteria provided, single submitter clinical testing A heterozygous c.839delC (p.P280Lfs*46) pathogenic variant in the GATA2 gene was identified in the affected proband. The variant is not present in the proband's unaffected mother or unaffected brother.

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