ClinVar Miner

Submissions for variant NM_017519.2(ARID1B):c.1054_1056GGC[7] (p.Gly357dup) (rs797045268)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224517 SCV000281123 uncertain significance not provided 2016-04-25 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Genetic Services Laboratory, University of Chicago RCV000503982 SCV000593400 likely benign not specified 2016-04-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716343 SCV000847183 benign History of neurodevelopmental disorder 2019-01-18 criteria provided, single submitter clinical testing In silico models in agreement (benign);General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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