ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.171C>T (p.Ala57=)

gnomAD frequency: 0.00004  dbSNP: rs200136266
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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 RCV001513202 SCV001720769 benign Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2023-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710269 SCV005250359 benign not provided criteria provided, single submitter not provided

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