ClinVar Miner

Submissions for variant NM_004380.2(CREBBP):c.[4112T>A;4118C>A]

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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 Molecular Medicine, Children’s Hospital of Fudan University RCV000754902 SCV000778557 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2018-07-01 criteria provided, single submitter clinical testing

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