ClinVar Miner

Submissions for variant NM_006015.6(ARID1A):c.483CGC[5] (p.Ala167dup)

dbSNP: rs759913677
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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 RCV000500108 SCV000593355 uncertain significance not specified 2015-09-22 criteria provided, single submitter clinical testing
GeneDx RCV001683525 SCV001903259 benign not provided 2019-04-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001683525 SCV002223135 benign not provided 2023-12-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925447 SCV004744330 likely benign ARID1A-related disorder 2023-09-27 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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