ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.4127C>A (p.Ser1376Ter) (rs1045076800)

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
SIB Swiss Institute of Bioinformatics RCV000853520 SCV000996478 pathogenic Achondrogenesis, type IA 2019-06-27 criteria provided, single submitter curation This variant is interpreted as a Pathogenic for Achondrogenesis 1A, autosomal recessive. The following ACMG Tag(s) were applied: PM2, PVS1, PM3.

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.