ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.2649C>T (p.Phe883=) (rs775588479)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000272754 SCV000333103 uncertain significance not provided 2015-07-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825844 SCV000967327 likely benign not specified 2018-10-10 criteria provided, single submitter clinical testing The p.Phe883Phe variant in TTN is classified as likely benign because it does no t alter an amino acid residue, is not located within the splice consensus site, and computational splice prediction tools do not predict an impact on splicing. It has been identified in 4/245924 of chromosomes by gnomAD (http://gnomad.broad ACMG/AMP Criteria applied: BP4, BP7.
Invitae RCV001503592 SCV001708448 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-03-06 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.