ClinVar Miner

Submissions for variant NM_020732.3(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
Ambry Genetics RCV000716343 SCV000847183 likely benign History of neurodevelopmental disorder 2017-10-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Does not segregate with disease in family study (genes with incomplete penetrance)
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

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