ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.1421A>G (p.Gln474Arg)

dbSNP: rs1555548680
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hwa Lab, Division of Endocrinology, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine RCV000625734 SCV000680478 pathogenic Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2017-08-02 no assertion criteria provided research
OMIM RCV001254780 SCV001430882 pathogenic Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant 2020-08-21 no assertion criteria provided literature only

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