ClinVar Miner

Submissions for variant NM_139276.3(STAT3):c.1366-9C>T

gnomAD frequency: 0.00003  dbSNP: rs375054973
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000222106 SCV000270866 likely benign not specified 2016-03-16 criteria provided, single submitter clinical testing c.1366-9C>T in intron 15 of STAT3: This variant is not expected to have clinical significance because a C>T change at this position does not diverge from the sp lice consensus sequence and is therefore unlikely to impact splicing. It has bee n identified in 1/10320 African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs375054973).
Labcorp Genetics (formerly Invitae), Labcorp RCV003765378 SCV004580586 likely benign Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of function 2023-06-10 criteria provided, single submitter clinical testing

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