ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.1569G>A (p.Arg523=)

gnomAD frequency: 0.00034  dbSNP: rs143172354
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000260077 SCV000343877 uncertain significance not provided 2016-09-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001079617 SCV000763842 benign Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2024-02-01 criteria provided, single submitter clinical testing

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