ClinVar Miner

Submissions for variant NM_006015.6(ARID1A):c.6099GGA[2] (p.Glu2036del)

dbSNP: rs2081176133
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196805 SCV001367438 uncertain significance Intellectual disability, autosomal dominant 14 2019-03-04 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence favors the pathogenic nature of this variant, however the currently available data is insufficient to conclusively support its pathogenic nature. Thus this variant is classified as Uncertain significance - favor pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PM6,BP3.
Solve-RD Consortium RCV001196805 SCV005199966 likely pathogenic Intellectual disability, autosomal dominant 14 2022-06-01 no assertion criteria provided provider interpretation Variant confirmed as disease-causing by referring clinical team

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