ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.73334C>T (p.Thr24445Ile)

gnomAD frequency: 0.00011  dbSNP: rs377334665
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000731480 SCV000237524 likely benign not provided 2021-04-07 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23396983, 31983221)
Invitae RCV000228035 SCV000286825 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2015-12-19 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000731480 SCV000859304 uncertain significance not provided 2018-01-25 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769949 SCV000901375 uncertain significance Cardiomyopathy 2017-02-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000184806 SCV000966549 likely benign not specified 2018-08-29 criteria provided, single submitter clinical testing The p.Thr21877Ile variant in TTN is classified as likely benign because it has b een identified in 0.02% (25/125770) of European chromosomes by the Genome Aggreg ation Database (gnomAD, http://gnomad.broadinstitute.org). This variant has also been reported in ClinVar (Variation ID 202848). ACMG/AMP Criteria applied: BS1, PP3.
Athena Diagnostics Inc RCV000731480 SCV001146480 uncertain significance not provided 2019-07-18 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000731480 SCV002541931 uncertain significance not provided 2021-08-30 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000731480 SCV003825577 uncertain significance not provided 2020-02-28 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.