ClinVar Miner

Submissions for variant NM_006015.6(ARID1A):c.6612C>T (p.Ala2204=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003487100 SCV004237803 likely benign Intellectual disability, autosomal dominant 14 2023-10-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003732604 SCV004525230 benign not provided 2023-11-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003901098 SCV004713191 likely benign ARID1A-related disorder 2023-05-04 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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