ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.18379T>G (p.Cys6127Gly)

gnomAD frequency: 0.00011  dbSNP: rs370812788
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000726101 SCV000238252 likely benign not provided 2020-08-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000215380 SCV000270979 likely benign not specified 2015-03-21 criteria provided, single submitter clinical testing p.Cys4883Gly in exon 60 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 0.7% (58/8346) of East Asian chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs370812788).
Ambry Genetics RCV000253515 SCV000318622 uncertain significance Cardiovascular phenotype 2013-05-24 criteria provided, single submitter clinical testing There is insufficient or conflicting evidence for classification of this alteration.
Invitae RCV001079996 SCV000642753 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-12-12 criteria provided, single submitter clinical testing
Eurofins NTD LLC (GA) RCV000726101 SCV000701229 uncertain significance not provided 2017-01-13 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000726101 SCV001146331 benign not provided 2018-12-29 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001798658 SCV002042386 benign Cardiomyopathy 2021-05-13 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000215380 SCV001917621 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000726101 SCV001975325 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000726101 SCV002033960 likely benign not provided 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.