ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.34970G>A (p.Arg11657His) (rs59887778)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 14
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000040181 SCV000051620 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040181 SCV000063872 benign not specified 2012-04-11 criteria provided, single submitter clinical testing Arg10356His in exon 150 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 2.4% (67/2778) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs59887778).
Genetic Services Laboratory, University of Chicago RCV000040181 SCV000153253 benign not specified 2014-08-14 criteria provided, single submitter clinical testing
GeneDx RCV000040181 SCV000169245 benign not specified 2014-04-07 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 RCV000230183 SCV000286599 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000247549 SCV000318844 benign Cardiovascular phenotype 2013-07-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000276237 SCV000423541 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000317216 SCV000423542 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000371916 SCV000423543 likely benign Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000262801 SCV000423544 likely benign Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000317938 SCV000423545 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000377333 SCV000423546 likely benign Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769038 SCV000900411 benign Cardiomyopathy 2016-11-09 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852869 SCV000995603 benign Arrhythmogenic right ventricular cardiomyopathy 2018-01-03 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.