ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.10115-4G>A (rs367648529)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619673 SCV000737244 uncertain significance Cardiovascular phenotype 2017-03-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Insufficient evidence
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726929 SCV000704209 uncertain significance not provided 2016-12-07 criteria provided, single submitter clinical testing
GeneDx RCV000591543 SCV000730986 likely benign not specified 2017-03-27 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.
Invitae RCV000231691 SCV000286388 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-05-30 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000577970 SCV000679938 uncertain significance Dilated cardiomyopathy 1G 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578025 SCV000679939 uncertain significance Limb-girdle muscular dystrophy, type 2J 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578101 SCV000679940 uncertain significance Distal myopathy Markesbery-Griggs type 2017-08-01 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.