ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.2077+12C>T

gnomAD frequency: 0.00362  dbSNP: rs80293897
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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 RCV001520716 SCV001729890 benign Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2024-01-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710291 SCV005250354 benign not provided criteria provided, single submitter not provided

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