ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.15542G>C (p.Gly5181Ala) (rs201185434)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039872 SCV000063563 likely benign not specified 2012-01-24 criteria provided, single submitter clinical testing p.Gly3937Ala in exon 50 of TTN: This variant is not expected to have clinical si gnificance because it is not located within the splice consensus sequence and ha s been identified in 0.4% (12/3164) of African American chromosomes by the NHLBI Exome Sequencing Project in a broad population ( S).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000039872 SCV000114328 likely benign not specified 2015-08-21 criteria provided, single submitter clinical testing
GeneDx RCV000039872 SCV000238219 likely benign not specified 2017-06-26 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 RCV000459290 SCV000555535 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-12-04 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000039872 SCV000616001 benign not specified 2016-10-28 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.