ClinVar Miner

Submissions for variant NM_001079846.1(CREBBP):c.1537C>A (p.Leu513Ile) (rs61753381)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715783 SCV000846614 benign History of neurodevelopmental disorder 2016-04-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000426201 SCV000510653 benign not provided 2016-11-04 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000081031 SCV000257957 uncertain significance not specified 2014-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081031 SCV000112938 benign not specified 2013-03-18 criteria provided, single submitter clinical testing
GeneDx RCV000081031 SCV000719924 benign not specified 2018-01-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000081031 SCV000192837 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
ITMI RCV000081031 SCV000084772 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000550437 SCV000629364 benign Rubinstein-Taybi syndrome 1 2017-06-19 criteria provided, single submitter clinical testing

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