ClinVar Miner

Submissions for variant NM_006015.6(ARID1A):c.4779G>T (p.Arg1593=)

gnomAD frequency: 0.00033  dbSNP: rs140978841
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
GeneDx RCV001609539 SCV001841643 benign not provided 2020-03-20 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821929 SCV002068368 likely benign not specified 2021-08-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001609539 SCV002489941 benign not provided 2024-12-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260229 SCV002539478 benign Intellectual disability, autosomal dominant 14 2021-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001609539 SCV005074659 benign not provided 2024-06-01 criteria provided, single submitter clinical testing ARID1A: BP4, BS1, BS2

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.