ClinVar Miner

Submissions for variant NM_001079846.1(CREBBP):c.1216+1312C>T (rs1302427305)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501651 SCV000594223 pathogenic Rubinstein-Taybi syndrome 1 2016-02-02 criteria provided, single submitter clinical testing
GeneDx RCV000579110 SCV000680517 pathogenic not provided 2017-01-19 criteria provided, single submitter clinical testing The R413X nonsense variant in the CREBBP gene has been reported previously in association with Rubinstein-Taybi syndrome (Coupry et al., 2002; Schorry et al., 2008). The R413X variant was not observed in approximately 6400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
Wessex Regional Genetics Laboratory,Salisbury District Hospital RCV000501651 SCV000999405 pathogenic Rubinstein-Taybi syndrome 1 2019-11-05 criteria provided, single submitter clinical testing

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