ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.848_851del (p.Gln283fs)

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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 RCV002465004 SCV002759395 pathogenic Smith-Magenis syndrome 2022-12-08 criteria provided, single submitter clinical testing

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