ClinVar Miner

Submissions for variant NM_001079846.1(CREBBP):c.5322C>G (p.Thr1774=) (rs61731405)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081059 SCV000112966 benign not specified 2013-05-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081059 SCV000192893 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000081059 SCV000310305 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000716992 SCV000847837 likely benign History of neurodevelopmental disorder 2016-05-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign

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