ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.2259C>T (p.Thr753=)

gnomAD frequency: 0.00001  dbSNP: rs776893445
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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 RCV001430725 SCV001633470 likely benign Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2024-11-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV005243548 SCV005890637 likely benign not provided 2024-12-01 criteria provided, single submitter clinical testing STAT5B: BP4, BP7

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