ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.90181G>A (p.Val30061Ile)

gnomAD frequency: 0.00011  dbSNP: rs138958733
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
GeneDx RCV001288140 SCV000237726 likely benign not provided 2019-09-09 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001288140 SCV001475048 likely benign not provided 2022-12-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002362955 SCV002657207 likely benign Cardiovascular phenotype 2019-11-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Revvity Omics, Revvity RCV001288140 SCV003824804 uncertain significance not provided 2019-07-18 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.