ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.336C>T (p.Tyr112=) (rs559450042)

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 RCV000217450 SCV000270928 likely benign not specified 2015-02-16 criteria provided, single submitter clinical testing p.Tyr112Tyr in exon 6 of TNNI3: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 6/16424 South Asia n chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstit ute.org).
GeneDx RCV000217450 SCV000514920 benign not specified 2015-12-04 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.
Color Health, Inc RCV001189151 SCV001356377 likely benign Cardiomyopathy 2018-11-16 criteria provided, single submitter clinical testing
Invitae RCV001444772 SCV001647783 likely benign Hypertrophic cardiomyopathy 2020-09-03 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.