ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.68417C>T (p.Thr22806Ile)

dbSNP: rs727503573
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000152239 SCV000201040 uncertain significance not specified 2014-03-12 criteria provided, single submitter clinical testing The Thr20238Ile variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Computational prediction tool s and conservation analysis do not provide strong support for or against an impa ct to the protein. Additional information is needed to fully assess the clinical significance of the Thr20238Ile variant.
GeneDx RCV001704097 SCV000237465 likely benign not provided 2020-05-05 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.