ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.375+17G>A

gnomAD frequency: 0.00198  dbSNP: rs148509105
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002074123 SCV002384048 benign Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002482317 SCV002798351 benign Growth hormone insensitivity with immune dysregulation 1, autosomal recessive; Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant 2021-08-12 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001794950 SCV002033846 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001794950 SCV002037085 likely benign not provided no assertion criteria provided clinical testing

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