ClinVar Miner

Submissions for variant NC_000022.10:g.(41537227_41542742)_(41560135_41562602)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000449571 SCV000537705 pathogenic Rubinstein-Taybi syndrome 2 2016-12-13 criteria provided, single submitter clinical testing This the novo heterozygous tandem duplication in the EP300 gene was found in a patient with Rubinstein-Taybi syndrome.

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