ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.1598C>T (p.Thr533Ile)

dbSNP: rs2145099229
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002003398 SCV002274236 benign not provided 2024-12-31 criteria provided, single submitter clinical testing
GeneDx RCV002003398 SCV002549668 uncertain significance not provided 2024-11-27 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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