ClinVar Miner

Submissions for variant NM_139276.2(STAT3):c.1988C>T (p.Thr663Ile) (rs869312889)

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Total submissions: 3
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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 RCV000210428 SCV000266404 pathogenic Autoimmune disease, multisystem, infantile-onset, 1 2014-10-30 criteria provided, single submitter research segregates with the phenotype in an affected family
Blueprint Genetics RCV000788237 SCV000927286 likely pathogenic not provided 2017-06-07 criteria provided, single submitter clinical testing
OMIM RCV000210428 SCV000280009 pathogenic Autoimmune disease, multisystem, infantile-onset, 1 2016-09-15 no assertion criteria provided literature only

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