ClinVar Miner

Submissions for variant NM_139276.3(STAT3):c.2082T>A (p.His694Gln)

gnomAD frequency: 0.00019  dbSNP: rs139701269
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000781324 SCV000919270 uncertain significance not specified 2018-06-07 criteria provided, single submitter clinical testing
Invitae RCV001070774 SCV001236042 benign Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of function 2022-08-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000781324 SCV002066309 likely benign not specified 2020-02-17 criteria provided, single submitter clinical testing

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