ClinVar Miner

Submissions for variant NM_001079846.1(CREBBP):c.5889T>C (p.Asn1963=) (rs200998860)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081064 SCV000112971 benign not specified 2013-08-23 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081064 SCV000192905 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716393 SCV000847233 likely benign History of neurodevelopmental disorder 2016-07-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)

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