ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.92612T>C (p.Val30871Ala)

gnomAD frequency: 0.00005  dbSNP: rs756610221
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
Eurofins Ntd Llc (ga) RCV000591967 SCV000704830 uncertain significance not provided 2017-01-04 criteria provided, single submitter clinical testing
GeneDx RCV000591967 SCV001804421 likely benign not provided 2021-04-21 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000591967 SCV003824280 uncertain significance not provided 2021-10-05 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.