ClinVar Miner

Submissions for variant NM_139276.3(STAT3):c.432G>A (p.Leu144=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003787407 SCV004576423 likely benign Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of function 2023-03-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003994586 SCV004813405 likely benign not specified 2024-02-20 criteria provided, single submitter clinical testing

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