ClinVar Miner

Submissions for variant NM_006015.6(ARID1A):c.2123A>C (p.Gln708Pro)

gnomAD frequency: 0.00006  dbSNP: rs367889013
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224299 SCV000281619 benign not provided 2016-02-08 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000120069 SCV000593341 likely benign not specified 2016-07-14 criteria provided, single submitter clinical testing
Invitae RCV000224299 SCV001026857 benign not provided 2024-01-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259636 SCV002539460 benign Intellectual disability, autosomal dominant 14 2021-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000224299 SCV004123591 benign not provided 2024-01-01 criteria provided, single submitter clinical testing ARID1A: BS1, BS2
ITMI RCV000120069 SCV000084206 not provided not specified 2013-09-19 no assertion provided reference population

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.