ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.88028G>A (p.Arg29343His) (rs73036368)

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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000040741 SCV000064432 benign not specified 2018-10-10 criteria provided, single submitter clinical testing The p.Arg26775His variant in TTN is classified as benign because it has been ide ntified in 0.1% (29/23976) of African chromosomes by gnomAD (http://gnomad.broad institute.org). ACMG/AMP Criteria applied: BA1.
Genetic Services Laboratory, University of Chicago RCV000118786 SCV000153376 uncertain significance not provided 2014-03-13 criteria provided, single submitter clinical testing
GeneDx RCV000118786 SCV000237692 likely benign not provided 2021-03-03 criteria provided, single submitter clinical testing
Invitae RCV000476079 SCV000542688 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-11-06 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000118786 SCV000706717 uncertain significance not provided 2017-02-28 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.