ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.40222+2TA[9]

dbSNP: rs10580462
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172344 SCV000055007 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000172344 SCV001825986 likely benign not provided 2019-08-06 criteria provided, single submitter clinical testing
Invitae RCV002054034 SCV002460984 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-02-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529251 SCV001742384 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000172344 SCV001800354 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001529251 SCV001922203 benign not specified 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.