ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.280C>T (p.Leu94Phe)

gnomAD frequency: 0.00015  dbSNP: rs199645527
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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) RCV000733294 SCV000861342 uncertain significance not provided 2018-06-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001401938 SCV001603776 likely benign Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2023-11-27 criteria provided, single submitter clinical testing

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