ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.70305G>A (p.Thr23435=) (rs397517684)

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 RCV000040554 SCV000064245 likely benign not specified 2016-05-18 criteria provided, single submitter clinical testing p.Thr20867Thr in exon 275 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue. It has been ident ified in 1/66632 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs397517684).
GeneDx RCV000040554 SCV000531489 likely benign not specified 2016-09-02 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.
Athena Diagnostics Inc RCV000714085 SCV000844752 benign not provided 2018-06-11 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.