ClinVar Miner

Submissions for variant NM_006015.6(ARID1A):c.6232G>A (p.Glu2078Lys)

dbSNP: rs869312956
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000210642 SCV000262984 likely pathogenic Inborn genetic diseases 2013-11-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Strasbourg University Hospital RCV001260884 SCV001437984 uncertain significance Intellectual disability 2020-09-10 criteria provided, single submitter clinical testing
GeneDx RCV001762456 SCV001988960 uncertain significance not provided 2019-06-04 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 25356970)
Laboratory of Medical Genetics, University of Torino RCV003444021 SCV004171098 likely pathogenic Intellectual disability, autosomal dominant 14 criteria provided, single submitter clinical testing

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