ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.2352C>T (p.His784=)

gnomAD frequency: 0.00009  dbSNP: rs375173590
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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 RCV001448746 SCV001651845 likely benign Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001702594 SCV005212758 likely benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702594 SCV001931438 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001702594 SCV001967035 likely benign not provided no assertion criteria provided clinical testing

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