ClinVar Miner

Submissions for variant NM_139276.2(STAT3):c.2107G>A (p.Ala703Thr) (rs869312894)

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Total submissions: 2
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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 RCV000210433 SCV000266410 pathogenic Autoimmune disease, multisystem, infantile-onset, 1 2014-10-30 criteria provided, single submitter research segregates with the phenotype in an affected family
OMIM RCV000210433 SCV000280011 pathogenic Autoimmune disease, multisystem, infantile-onset, 1 2016-09-15 no assertion criteria provided literature only

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