ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.1058G>A (p.Arg353His)

gnomAD frequency: 0.00009  dbSNP: rs143171571
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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) RCV000592373 SCV000704922 uncertain significance not provided 2017-01-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088577 SCV001027603 likely benign Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2024-01-24 criteria provided, single submitter clinical testing

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