ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.376-15C>G

gnomAD frequency: 0.00129  dbSNP: rs201981865
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001515177 SCV001723193 benign Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2024-01-29 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573490 SCV001799444 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702105 SCV001930157 benign not specified no assertion criteria provided clinical testing

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