ClinVar Miner

Submissions for variant NM_139276.3(STAT3):c.1032G>C (p.Gln344His)

dbSNP: rs869312887
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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 RCV000210413 SCV000266402 pathogenic STAT3-related early-onset multisystem autoimmune disease 2014-10-30 criteria provided, single submitter research segregates with the phenotype in an affected family
OMIM RCV000210413 SCV000280010 pathogenic STAT3-related early-onset multisystem autoimmune disease 2016-09-15 no assertion criteria provided literature only

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