ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.86085C>T (p.Asp28695=) (rs773001228)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000222129 SCV000271095 likely benign not specified 2015-06-10 criteria provided, single submitter clinical testing p.Asp26127Asp in exon 275 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 2/66374 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000734322 SCV000862453 uncertain significance not provided 2018-07-17 criteria provided, single submitter clinical testing
Invitae RCV000734322 SCV001006732 likely benign not provided 2018-11-07 criteria provided, single submitter clinical testing
Invitae RCV001403631 SCV001605504 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2018-11-07 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.