ClinVar Miner

Submissions for variant NM_006060.6(IKZF1):c.814G>A (p.Ala272Thr) (rs778820674)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Immunogenetics Laboratory,Johns Hopkins All Children's Hospital RCV000662349 SCV000778467 likely pathogenic Immunodeficiency, common variable, 13 2018-06-12 criteria provided, single submitter clinical testing The patient is a 15 years old male with a history of chronic refractory thrombocytopenia diagnosed at age of 6. He had episodes of low platelet count with diffuse petechiae and mucosal bleeding. He has normal T cell and B cell numbers, and normal immunoglobulin levels. However, he has increased double negative T cells (CD3+/CD4- CD8-).

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