ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.12986G>A (p.Arg4329Lys) (rs199560188)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000247432 SCV000320092 likely benign Cardiovascular phenotype 2016-12-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,Insufficient or conflicting evidence,In silico models in agreement (benign)
Athena Diagnostics Inc RCV000041101 SCV000615990 benign not specified 2016-10-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041101 SCV000333897 likely benign not specified 2015-08-21 criteria provided, single submitter clinical testing
GeneDx RCV000041101 SCV000238181 likely benign not specified 2017-06-26 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.
Invitae RCV000472841 SCV000555634 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2018-01-06 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041101 SCV000064792 likely benign not specified 2012-01-24 criteria provided, single submitter clinical testing Arg4091Lys in exon 45B of TTN: This variant is not expected to have clinical sig nificance because it has been identified in 0.4% (12/3118) of African American c hromosomes by the NHLBI Exome Sequencing Project in a broad population (http://e Arg4091Lys in exon 45B of TTN (allele frequency = 0. 4%, 12/3118) **

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.