ClinVar Miner

Submissions for variant NM_139276.3(STAT3):c.373C>G (p.Gln125Glu)

gnomAD frequency: 0.00001  dbSNP: rs574370336
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000658779 SCV000780574 uncertain significance not provided 2018-02-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198591 SCV001369581 uncertain significance STAT3-related early-onset multisystem autoimmune disease 2019-10-27 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: No criteria apply.
Invitae RCV001433648 SCV001636439 likely benign Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of function 2023-12-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816659 SCV002071267 uncertain significance not specified 2019-10-11 criteria provided, single submitter clinical testing

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