ClinVar Miner

Submissions for variant NM_139276.2(STAT3):c.1260T>G (p.Asn420Lys) (rs869312893)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000210425 SCV000266409 pathogenic Autoimmune disease, multisystem, infantile-onset, 1 2014-10-30 criteria provided, single submitter research segregates with the phenotype in an affected family

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