ClinVar Miner

Submissions for variant NM_002547.2(OPHN1):c.313_326del

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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 RCV003625107 SCV004543869 pathogenic X-linked intellectual disability-cerebellar hypoplasia syndrome 2023-11-08 criteria provided, single submitter clinical testing

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