ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.280_286del (p.Arg94fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV004821110 SCV005442060 likely pathogenic Smith-Magenis syndrome 2024-12-19 criteria provided, single submitter clinical testing

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