ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.36082G>C (p.Val12028Leu)

gnomAD frequency: 0.00009  dbSNP: rs373086922
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
CeGaT Center for Human Genetics Tuebingen RCV001572952 SCV002544165 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing TTN: BP4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572952 SCV001798093 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001572952 SCV001925974 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001572952 SCV001968447 likely benign not provided no assertion criteria provided 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.