ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.102966T>C (p.Ser34322=)

gnomAD frequency: 0.00004  dbSNP: rs200172231
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
PreventionGenetics, part of Exact Sciences RCV000252074 SCV000315636 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001697603 SCV000726159 likely benign not provided 2019-04-22 criteria provided, single submitter clinical testing
Invitae RCV000643895 SCV000765582 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-12-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001697603 SCV002544129 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing TTN: BP4, BP7

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.