ClinVar Miner

Submissions for variant NM_020732.3(ARID1B):c.2896G>A (p.Gly966Ser) (rs34786733)

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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 RCV000718665 SCV000849529 benign History of neurodevelopmental disorder 2017-02-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513976 SCV000610118 benign not provided 2017-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000114266 SCV000147825 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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