ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.3597C>G (p.Tyr1199Ter)

dbSNP: rs1562328526
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000679920 SCV000807351 pathogenic Coffin-Siris syndrome 1 2017-09-01 criteria provided, single submitter clinical testing At time of reporting, this nonsense mutation was novel. Found in a 11-year-old female with severe delays, mild conductive hearing loss, hypotonia, dysmorphic features, short stature.
Baylor Genetics RCV001533117 SCV001748937 pathogenic ARID1B-related BAFopathy 2021-06-10 criteria provided, single submitter clinical testing

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.