ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.1164C>T (p.Thr388=)

gnomAD frequency: 0.00011  dbSNP: rs144060305
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000889374 SCV001033051 likely benign Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2023-12-13 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004782593 SCV005395517 likely benign not specified 2024-09-09 criteria provided, single submitter clinical testing

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