ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.3010G>A (p.Glu1004Lys) (rs200902055)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
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 RCV000172484 SCV000051236 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Invitae RCV000477223 SCV000542568 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2018-01-04 criteria provided, single submitter clinical testing
GeneDx RCV000601032 SCV000714987 likely benign not specified 2017-02-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000622026 SCV000735986 likely benign Cardiovascular phenotype 2020-06-17 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification
Athena Diagnostics Inc RCV000172484 SCV000844670 uncertain significance not provided 2017-09-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000172484 SCV000855033 uncertain significance not provided 2018-06-15 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.