ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.73825G>C (p.Glu24609Gln) (rs55762754)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 13
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000247787 SCV000318552 likely benign Cardiovascular phenotype 2013-10-16 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769945 SCV000901371 benign Cardiomyopathy 2017-10-10 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040592 SCV000332050 benign not specified 2015-06-24 criteria provided, single submitter clinical testing
GeneDx RCV000040592 SCV000237529 benign not specified 2017-06-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000336155 SCV000421825 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000396511 SCV000421826 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000301041 SCV000421827 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000367543 SCV000421828 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000398639 SCV000421829 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000314072 SCV000421830 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000458685 SCV000555526 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2018-01-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040592 SCV000064283 likely benign not specified 2014-01-31 criteria provided, single submitter clinical testing Glu22041Gln in exon 275 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 0.24% (20/8288) of European America n chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.ed u/EVS/) as well as 0.3% (7/2178) of chromosomes tested by the 1000 genomes proje ct (dbSNP rs55762754). Glu22041Gln in exon 275 of TTN (rs55762754; allele fr equency = 0.3%, 7/2178; 1000 Genomes)
PreventionGenetics RCV000040592 SCV000315549 likely benign not specified 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.