ClinVar Miner

Submissions for variant NM_001079846.1(CREBBP):c.7098A>G (p.Glu2366=) (rs55916120)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715519 SCV000846348 benign History of neurodevelopmental disorder 2016-05-17 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081072 SCV000112979 benign not specified 2013-03-18 criteria provided, single submitter clinical testing
GeneDx RCV000081072 SCV000515885 benign not specified 2016-06-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000081072 SCV000192917 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000544854 SCV000629378 benign Rubinstein-Taybi syndrome 1 2017-06-20 criteria provided, single submitter clinical testing
PreventionGenetics RCV000081072 SCV000310309 benign not specified criteria provided, single submitter clinical testing

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