ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.849C>T (p.Ala283=)

gnomAD frequency: 0.00006  dbSNP: rs771823136
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000909946 SCV001054784 likely benign Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2019-11-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704309 SCV005212760 likely benign not provided criteria provided, single submitter not provided

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