ClinVar Miner

Submissions for variant NM_020732.3(ARID1B):c.921_923CGG[9] (p.Gly319dup) (rs587779747)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000717347 SCV000848197 benign History of neurodevelopmental disorder 2017-04-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: 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,Other data supporting benign classification
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514231 SCV000610259 likely benign not provided 2017-03-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000192790 SCV000246545 likely benign not specified 2014-12-23 criteria provided, single submitter clinical testing

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