ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.8788G>A (p.Val2930Ile) (rs56373393)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
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 RCV000172458 SCV000055098 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Invitae RCV001084753 SCV000286888 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-09-04 criteria provided, single submitter clinical testing
GeneDx RCV000172458 SCV000715724 likely benign not provided 2018-10-25 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769106 SCV000900479 uncertain significance Cardiomyopathy 2015-12-07 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000172458 SCV001500692 uncertain significance not provided 2020-11-01 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000172458 SCV001797432 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000614292 SCV001918327 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.