ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.1335A>G (p.Glu445=)

gnomAD frequency: 0.00232  dbSNP: rs111880437
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000406641 SCV000341658 likely benign not specified 2016-06-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000971309 SCV001118948 benign Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2024-01-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004703578 SCV005212759 likely benign not provided criteria provided, single submitter not provided

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