ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.182T>C (p.Leu61Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV004764747 SCV005374424 uncertain significance Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2024-09-22 criteria provided, single submitter clinical testing

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