ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.2237+15T>C

gnomAD frequency: 0.01303  dbSNP: rs113762956
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175329 SCV000226800 benign not specified 2014-08-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001519635 SCV001728529 benign Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500479 SCV002798553 likely benign Growth hormone insensitivity with immune dysregulation 1, autosomal recessive; Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant 2021-10-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004709349 SCV005250353 benign not provided criteria provided, single submitter not provided

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