ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.3293_3297del (p.Val1098fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV003127461 SCV003804046 likely pathogenic Smith-Magenis syndrome 2022-01-24 criteria provided, single submitter clinical testing

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