ClinVar Miner

Submissions for variant NM_006015.6(ARID1A):c.3408G>A (p.Ala1136=)

gnomAD frequency: 0.00029  dbSNP: rs146598030
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500706 SCV000593344 likely benign not specified 2017-11-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765105 SCV000896327 uncertain significance Intellectual disability, autosomal dominant 14 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV001709657 SCV001937553 benign not provided 2020-02-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001709657 SCV002328568 likely benign not provided 2025-02-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003960149 SCV004770392 likely benign ARID1A-related disorder 2021-10-07 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).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.