ClinVar Miner

Submissions for variant NM_017519.2(ARID1B):c.366_368GCA[8] (p.Gln131dup) (rs587779744)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194906 SCV000246521 likely benign not specified 2015-06-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718162 SCV000849024 benign History of neurodevelopmental disorder 2017-09-22 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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