ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.89240C>G (p.Thr29747Ser)

dbSNP: rs370568740
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595768 SCV000701076 likely benign not specified 2017-05-24 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769892 SCV000901318 likely benign Cardiomyopathy 2016-08-29 criteria provided, single submitter clinical testing
Invitae RCV001445697 SCV001648731 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-10-26 criteria provided, single submitter clinical testing
GeneDx RCV000643519 SCV001857611 benign not provided 2020-02-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840686 SCV002102236 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840687 SCV002102237 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840688 SCV002102238 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840685 SCV002102240 benign Tibial muscular dystrophy 2021-09-10 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.