ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.993G>A (p.Thr331=)

gnomAD frequency: 0.01527  dbSNP: rs59491077
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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) RCV000180640 SCV000233119 benign not specified 2014-08-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000538129 SCV000641792 benign Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485183 SCV002798563 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 RCV004709353 SCV005250356 benign not provided criteria provided, single submitter not provided

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