ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.247C>T (p.Leu83=)

gnomAD frequency: 0.00415  dbSNP: rs146176992
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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) RCV000297966 SCV000333759 benign not specified 2015-08-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000642182 SCV000763836 benign Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2025-02-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003326397 SCV004033558 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing STAT5B: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV003326397 SCV005250358 benign not provided criteria provided, single submitter not provided

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