ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.2762del (p.His921fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV004698369 SCV005199856 pathogenic Intellectual disability, autosomal dominant 29 2024-08-21 criteria provided, single submitter clinical testing

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