ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.2334C>T (p.Asp778=)

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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 RCV002995166 SCV003293519 likely benign Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2023-03-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004756454 SCV005353791 likely benign STAT5B-related disorder 2024-03-11 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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