ClinVar Miner

Submissions for variant NM_001079846.1(CREBBP):c.2697G>A (p.Pro899=) (rs146168040)

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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 RCV000081041 SCV000112948 uncertain significance not provided 2015-04-08 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000145731 SCV000192851 uncertain significance Rubinstein-Taybi syndrome 1 2013-06-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716121 SCV000846956 likely benign History of neurodevelopmental disorder 2016-04-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000081041 SCV001013133 likely benign not provided 2019-03-04 criteria provided, single submitter clinical testing

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