ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.100982G>A (p.Arg33661Lys) (rs201857158)

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
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172168 SCV000051096 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Ambry Genetics RCV000244016 SCV000318494 uncertain significance Cardiovascular phenotype 2013-03-06 criteria provided, single submitter clinical testing There is insufficient or conflicting evidence for classification of this alteration.
Phosphorus, Inc. RCV000577929 SCV000679969 uncertain significance Dilated cardiomyopathy 1G 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578003 SCV000679970 uncertain significance Limb-girdle muscular dystrophy, type 2J 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578083 SCV000679971 uncertain significance Tibial muscular dystrophy 2017-08-01 criteria provided, single submitter clinical testing
GeneDx RCV000172168 SCV000714308 likely benign not provided 2020-10-27 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23861362)
Invitae RCV001078580 SCV000765049 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-09-24 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV000600352 SCV001919594 benign not specified no assertion criteria provided 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.