ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.57112-11T>C

gnomAD frequency: 0.00004  dbSNP: rs553667328
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 RCV000152287 SCV000201144 likely benign not specified 2014-06-30 criteria provided, single submitter clinical testing 49408-11T>C in intron 241 of TTN: This variant is not expected to have clinical significance because a T>C change at this position does not diverge from the spl ice consensus sequence and is therefore unlikely to impact splicing.
Labcorp Genetics (formerly Invitae), Labcorp RCV002056013 SCV002396715 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-12-17 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.