ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11910A>T (p.Thr3970=)

gnomAD frequency: 0.00004  dbSNP: rs727503660
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
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000152425 SCV000201472 likely benign not specified 2014-05-28 criteria provided, single submitter clinical testing Thr3732Thr in exon 45B of TTN: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence.
Eurofins NTD LLC (GA) RCV000727474 SCV000708857 uncertain significance not provided 2017-05-24 criteria provided, single submitter clinical testing
Invitae RCV001397430 SCV001599177 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2020-08-14 criteria provided, single submitter clinical testing
GeneDx RCV000727474 SCV001940437 benign not provided 2015-05-06 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.