ClinVar Miner

Submissions for variant NM_001079846.1(CREBBP):c.1149G>A (p.Pro383=) (rs61759495)

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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 RCV000081028 SCV000112935 benign not specified 2013-05-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000145712 SCV000192830 uncertain significance Rubinstein-Taybi syndrome 1 2013-02-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716378 SCV000847218 likely benign History of neurodevelopmental disorder 2016-07-15 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000872923 SCV001014817 benign not provided 2019-02-14 criteria provided, single submitter clinical testing

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