ClinVar Miner

Submissions for variant NM_001079846.1(CREBBP):c.5605G>A (p.Ala1869Thr) (rs199990883)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715211 SCV000846039 likely benign History of neurodevelopmental disorder 2018-01-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
CeGaT Praxis fuer Humangenetik Tuebingen RCV000224624 SCV000892451 likely benign not provided 2018-09-30 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224624 SCV000281584 benign not provided 2015-12-21 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000081061 SCV000257959 benign not specified 2015-06-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081061 SCV000112968 benign not specified 2014-04-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000145767 SCV000192895 uncertain significance Rubinstein-Taybi syndrome 1 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000145767 SCV000754213 benign Rubinstein-Taybi syndrome 1 2017-11-08 criteria provided, single submitter clinical testing

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