ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.1198G>A (p.Val400Ile)

gnomAD frequency: 0.00003  dbSNP: rs534184222
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV000681498 SCV000808948 likely benign Intellectual disability 2017-01-01 criteria provided, single submitter clinical testing
GeneDx RCV001771927 SCV002001780 uncertain significance not provided 2020-02-04 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001771927 SCV002130612 benign not provided 2025-01-17 criteria provided, single submitter clinical testing

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