ClinVar Miner

Submissions for variant NM_024665.7(TBL1XR1):c.1043A>G (p.His348Arg)

dbSNP: rs1576994053
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
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli RCV000824684 SCV000930697 likely pathogenic Intellectual disability, autosomal dominant 41 2019-07-10 criteria provided, single submitter clinical testing
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli RCV001420340 SCV001622760 likely pathogenic See cases 2021-04-26 criteria provided, single submitter clinical testing PM2_supporting;PM6_moderate;PP2_supporting;PP3_supporting;PP5_supporting

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.