ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.24156A>G (p.Thr8052=)

dbSNP: rs749823104
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000221372 SCV000270992 likely benign not specified 2015-01-26 criteria provided, single submitter clinical testing p.Thr6808Thr in exon 80 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 6/66528 European c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org).
GeneDx RCV000727804 SCV000515677 likely benign not provided 2020-10-19 criteria provided, single submitter clinical testing
Invitae RCV001088472 SCV000555594 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-16 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727804 SCV000855221 uncertain significance not provided 2018-07-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000727804 SCV001153036 uncertain significance not provided 2016-06-01 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.