ClinVar Miner

Submissions for variant NM_030665.3(RAI1):c.3781_3783delGAG (p.Glu1261del) (rs149716029)

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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 RCV000719349 SCV000850215 likely benign History of neurodevelopmental disorder 2017-10-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,Other data supporting benign classification
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000118114 SCV000610768 likely benign not provided 2017-09-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082265 SCV000114214 benign not specified 2013-01-03 criteria provided, single submitter clinical testing
GeneDx RCV000082265 SCV000565480 likely benign not specified 2015-08-31 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 RCV000118114 SCV000152441 uncertain significance not provided 2013-06-12 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082265 SCV000152451 benign not specified 2014-08-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000082265 SCV000314714 likely benign not specified criteria provided, single submitter clinical testing

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