ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.195G>A (p.Val65=)

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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 RCV003048729 SCV003354231 likely benign Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2022-09-22 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004700905 SCV005204586 likely benign not specified 2024-06-19 criteria provided, single submitter clinical testing

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