ClinVar Miner

Variants in gene TNNT2

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
46 76 286 158 54 511

Condition and significance breakdown #

Total conditions: 33
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Familial hypertrophic cardiomyopathy 2; Left ventricular noncompaction 6; Familial restrictive cardiomyopathy 3 22 7 147 53 10 238
Cardiomyopathy 4 8 93 66 13 179
not provided 26 39 46 37 24 158
not specified 0 1 70 56 27 142
Hypertrophic cardiomyopathy 8 14 15 7 0 43
Familial hypertrophic cardiomyopathy 2 5 6 25 2 3 38
Left ventricular noncompaction 6 10 2 25 1 0 38
Cardiovascular phenotype 9 5 14 3 4 35
Familial restrictive cardiomyopathy 3 2 0 22 2 0 26
Primary dilated cardiomyopathy 4 11 6 0 0 20
Cardiomyopathy, left ventricular noncompaction 0 0 11 8 0 19
Primary familial hypertrophic cardiomyopathy 7 4 5 1 2 19
Dilated Cardiomyopathy, Dominant 0 0 8 8 0 16
Familial restrictive cardiomyopathy 0 0 4 7 0 11
none provided 0 0 3 0 5 8
Primary familial dilated cardiomyopathy 0 5 1 0 0 6
Dilated cardiomyopathy 1DD 1 0 4 0 0 5
Familial hypertrophic cardiomyopathy 1 0 1 4 0 0 5
Familial hypertrophic cardiomyopathy 2; Left ventricular noncompaction 6 0 2 2 0 0 4
Costello syndrome 0 0 1 0 0 1
Dilated cardiomyopathy 1S 0 0 1 0 0 1
Familial isolated dilated cardiomyopathy 1 0 0 0 0 1
Hypertrophic cardiomyopathy; Wolff-Parkinson-White syndrome 0 1 0 0 0 1
Hypokinetic non-dilated cardiomyopathy 0 0 1 0 0 1
Increased left ventricular wall thickness 0 0 1 0 0 1
Left ventricular hypertrophy 0 0 0 1 0 1
Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy 1 0 0 0 0 1
Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy; Sudden unexplained death 0 0 0 0 1 1
Restrictive cardiomyopathy 0 1 0 0 0 1
Sudden cardiac death 0 0 1 0 0 1
Supraventricular tachycardia 0 0 0 1 0 1
TNNT2-Related Cardiomyopathy 0 0 1 0 0 1
Wolff-Parkinson-White pattern 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 52
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 22 7 147 60 11 246
GeneDx 23 26 30 55 30 164
Color Health, Inc 0 2 75 62 11 150
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 12 21 59 19 11 122
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 2 5 24 8 3 42
Illumina Clinical Services Laboratory,Illumina 0 0 26 9 0 35
Ambry Genetics 8 5 14 3 4 34
Stanford Center for Inherited Cardiovascular Disease,Stanford University 7 9 10 0 0 26
Integrated Genetics/Laboratory Corporation of America 4 2 11 3 5 25
Blueprint Genetics 5 6 11 2 0 24
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 5 8 2 1 5 21
PreventionGenetics, PreventionGenetics 0 0 0 2 11 13
OMIM 12 0 0 0 0 12
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 2 9 0 1 12
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 3 0 7 11
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 7 4 0 11
Evolutionary and Medical Genetics Laboratory, Centre for Cellular and Molecular Biology 2 0 4 0 0 6
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 4 0 1 5
Mendelics 0 0 2 0 3 5
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 2 2 1 0 0 5
Center for Human Genetics,University of Leuven 1 2 2 0 0 5
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 2 0 1 4
CSER _CC_NCGL, University of Washington 0 1 3 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 4 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 1 3 0 0 4
Center for Medical Genetics Ghent,University of Ghent 1 1 1 0 0 3
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 3 0 0 0 3
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 2 0 0 3
Genetics and Genomics Program,Sidra Medicine 0 1 2 0 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 1 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 2 0 0 2
Klaassen Lab,Charite University Medicine Berlin 0 1 1 0 0 2
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 1 0 1 0 2
Baylor Genetics 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 1 0 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 1
Human Genetics Research Centre, St George's University of London 0 0 1 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1 0 0 0 0 1
Erich and Hanna Klessmann Institute for Cardiovascular Research and Development,Heart and Diabetes Center North Rhine-Westphalia 0 0 1 0 0 1
Institute of Human Genetics,University of Wuerzburg 0 0 1 0 0 1
Phosphorus, Inc. 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 1 0 0 0 1
Gharavi Laboratory,Columbia University 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 1
New York Genome Center 1 0 0 0 0 1
Loeys Lab,Universiteit Antwerpen 0 0 1 0 0 1

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.