ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.4261C>T (p.Arg1421Trp)

gnomAD frequency: 0.00011  dbSNP: rs144672482
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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 RCV000155012 SCV000204694 likely benign not specified 2018-10-10 criteria provided, single submitter clinical testing The p.Arg1421Trp variant in TTN is classified as likely benign because it has be en identified in 0.05% (12/24020) of African chromosomes by gnomAD (http://gnoma d.broadinstitute.org). ACMG/AMP Criteria applied: BS1.
Genetic Services Laboratory, University of Chicago RCV000155012 SCV000249261 uncertain significance not specified 2014-04-29 criteria provided, single submitter clinical testing
GeneDx RCV001704127 SCV000732059 likely benign not provided 2021-03-03 criteria provided, single submitter clinical testing
Invitae RCV000643286 SCV000764973 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-11-06 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.