ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.834_836GCA[14] (p.Gln291dup) (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 RCV000177356 SCV000152446 benign not specified 2015-12-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000177356 SCV000229205 benign not specified 2014-10-06 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000177356 SCV000297330 benign not specified 2015-10-16 criteria provided, single submitter clinical testing
GeneDx RCV000177356 SCV000568891 likely benign not specified 2018-02-15 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.
Ambry Genetics RCV000715998 SCV000846831 benign History of neurodevelopmental disorder 2018-04-18 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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