ClinVar Miner

Submissions for variant NM_001079846.1(CREBBP):c.5874C>T (p.Ala1958=) (rs181646656)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715772 SCV000846603 benign History of neurodevelopmental disorder 2016-04-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081063 SCV000112970 benign not specified 2013-03-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081063 SCV000192903 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000530305 SCV000629374 benign Rubinstein-Taybi syndrome 1 2017-06-19 criteria provided, single submitter clinical testing
PreventionGenetics RCV000081063 SCV000310306 benign not specified criteria provided, single submitter clinical testing

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