ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.105787_105788delinsTT (p.Ala35263Phe) (rs794729250)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000252028 SCV000318055 likely benign Cardiovascular phenotype 2012-11-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000184182 SCV000844607 benign not provided 2015-08-17 criteria provided, single submitter clinical testing
GeneDx RCV000184182 SCV000236802 likely benign not provided 2012-09-26 criteria provided, single submitter clinical testing The variant is found in DCM panel(s).
Invitae RCV000226281 SCV000286412 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2018-01-09 criteria provided, single submitter clinical testing
PreventionGenetics RCV000254386 SCV000315659 benign not specified 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.