ClinVar Miner

Submissions for variant NM_001904.4(CTNNB1):c.1016_1025delinsT (p.Thr339_Arg342delinsIle)

dbSNP: rs1559470315
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000735215 SCV000863423 likely pathogenic Severe intellectual disability-progressive spastic diplegia syndrome 2018-07-17 criteria provided, single submitter clinical testing We feel that this variant fully explains the phenotype observed in our patient.

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.