ClinVar Miner

Submissions for variant NM_139276.3(STAT3):c.1858A>G (p.Thr620Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Transmission, Control and Immunobiology of Infections, Institut Pasteur de Tunis RCV002469941 SCV002765911 pathogenic Hyper-IgE recurrent infection syndrome 1, autosomal dominant 2016-01-01 no assertion criteria provided clinical testing

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