ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.35082C>T (p.Gly11694=)

gnomAD frequency: 0.00006  dbSNP: rs377761863
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
Invitae RCV000525195 SCV000643036 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-08-11 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000594417 SCV000701356 uncertain significance not provided 2017-03-08 criteria provided, single submitter clinical testing
GeneDx RCV000594417 SCV003918750 uncertain significance not provided 2023-04-10 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports a deleterious effect on splicing

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.