ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.690C>T (p.Ala230=)

gnomAD frequency: 0.00268  dbSNP: rs555155085
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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 RCV000557388 SCV000641791 benign Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2023-10-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710122 SCV005250357 benign not provided criteria provided, single submitter not provided

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