ClinVar Miner

Submissions for variant NM_001079846.1(CREBBP):c.2614A>G (p.Thr872Ala) (rs143247685)

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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 RCV000716234 SCV000847072 likely benign History of neurodevelopmental disorder 2017-03-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000421582 SCV000510827 benign not provided 2016-09-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000145728 SCV000202575 benign not specified 2013-12-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000145728 SCV000192848 likely benign not specified 2014-05-15 criteria provided, single submitter clinical testing
OMIM RCV000022942 SCV000044233 pathogenic Rubinstein-Taybi syndrome 1 2010-09-01 no assertion criteria provided literature only

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