ClinVar Miner

Submissions for variant NM_139276.3(STAT3):c.2144+20C>T

gnomAD frequency: 0.03624  dbSNP: rs8069115
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000254478 SCV000315911 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001522657 SCV001732243 benign Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of function 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001689935 SCV001913693 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001689935 SCV005250374 benign not provided criteria provided, single submitter not provided

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