ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.43481-16dup (rs730880350)

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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155834 SCV000205545 benign not specified 2014-01-22 criteria provided, single submitter clinical testing 35777-9_35777-8insT in intron 185 of TTN: This variant is not expected to have clinical significance because it does not alter the splice consensus sequence an d has been identified in 0.5% (57/11282) of European American and African Americ an chromosomes by the NHLBI Exome Sequencing Project ( du/EVS/). 35777-9_35777-8insT in intron 185 of TTN (allele frequency = 0.5%, 5 7/11282) **
Invitae RCV000468420 SCV000555035 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-06 criteria provided, single submitter clinical testing
GeneDx RCV000155834 SCV000716469 likely benign not specified 2017-03-02 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.

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.