ClinVar Miner

Submissions for variant NM_017519.2(ARID1B):c.921_923CGG[9] (p.Gly319dup) (rs587779747)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000192790 SCV000246545 likely benign not specified 2014-12-23 criteria provided, single submitter clinical testing
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
Ambry Genetics RCV000717347 SCV000848197 benign History of neurodevelopmental disorder 2017-04-14 criteria provided, single submitter clinical testing 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001198376 SCV001369288 likely benign Ischemic stroke; Seizures; Mental deterioration; Chronic kidney disease 2019-08-22 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this varinat's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: BS2. This variant was detected in heterozygous state.

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