ClinVar Miner

Submissions for variant NM_139276.3(STAT3):c.2281T>C (p.Leu761=)

gnomAD frequency: 0.00054  dbSNP: rs142236792
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000435057 SCV000514786 benign not specified 2015-09-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000883324 SCV001026620 benign Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of function 2023-10-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000435057 SCV001337723 benign not specified 2020-01-31 criteria provided, single submitter clinical testing

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