ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.2893C>T (p.Gln965Ter)

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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 RCV003127285 SCV003803829 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2022-08-04 criteria provided, single submitter clinical testing

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