ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.834_836GCA[9] (p.Gln288_Gln291del) (rs371983878)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000153798 SCV000152460 likely benign not specified 2014-05-29 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153798 SCV000203377 benign not specified 2014-02-25 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000153798 SCV000297329 benign not specified 2015-10-30 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000153798 SCV000314723 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000715799 SCV000846630 likely benign History of neurodevelopmental disorder 2017-04-17 criteria provided, single submitter clinical testing Other strong data supporting benign classification;General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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