ClinVar Miner

Variants in gene TNNT2

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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
40 63 184 86 28 323

Condition and significance breakdown #

Total conditions: 28
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not specified 0 0 69 54 23 136
Familial hypertrophic cardiomyopathy 2; Left ventricular noncompaction 6; Familial restrictive cardiomyopathy 3 13 6 66 27 7 119
not provided 25 35 39 1 3 95
Cardiomyopathy 3 1 21 13 12 50
Cardiovascular phenotype 8 5 15 3 4 35
Primary familial hypertrophic cardiomyopathy 10 13 5 1 2 29
Hypertrophic cardiomyopathy 1 2 13 8 0 24
Familial restrictive cardiomyopathy 0 1 11 8 0 20
Left ventricular noncompaction cardiomyopathy 0 0 12 8 0 20
Dilated Cardiomyopathy, Dominant 0 0 11 8 0 19
Primary dilated cardiomyopathy 4 10 3 0 0 17
Familial hypertrophic cardiomyopathy 2 8 7 2 0 0 16
Left ventricular noncompaction 6 8 0 8 0 0 16
Familial hypertrophic cardiomyopathy 1 0 1 5 0 0 6
Dilated cardiomyopathy 1DD 1 0 4 0 0 5
Familial restrictive cardiomyopathy 3 2 0 1 0 0 3
Costello syndrome 0 0 1 0 0 1
Dilated cardiomyopathy 0 0 1 0 0 1
Dilated cardiomyopathy 1S 0 0 1 0 0 1
Familial dilated cardiomyopathy 0 1 0 0 0 1
Familial hypertrophic cardiomyopathy 2; Left ventricular noncompaction 6 0 0 1 0 0 1
Familial isolated dilated cardiomyopathy 1 0 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
Sudden cardiac death 0 0 1 0 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: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 23 26 30 37 11 127
Invitae 16 8 67 27 7 125
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 11 20 59 20 10 120
Ambry Genetics 7 5 15 3 4 34
Stanford Center for Inherited Cardiovascular Disease,Stanford University 7 9 10 0 0 26
Color 0 0 7 9 10 26
Illumina Clinical Services Laboratory,Illumina 0 0 13 8 0 21
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 1 1 14 3 1 20
Integrated Genetics/Laboratory Corporation of America 2 1 8 1 5 17
Blueprint Genetics, 2 1 9 2 0 14
PreventionGenetics 0 0 0 2 11 13
OMIM 12 0 0 0 0 12
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 4 3 0 1 0 8
Evolutionary and Medical Genetics Laboratory, Centre for Cellular and Molecular Biology 2 0 4 0 0 6
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 1 5 0 0 6
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 4 0 1 5
CSER_CC_NCGL; University of Washington Medical Center 0 2 3 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
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
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 1 0 2
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 2 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 0 2 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 0 1
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
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
Erich and Hanna Klessmann Institute for Cardiovascular Research and Development,Heart and Diabetes Center North Rhine-Westphalia 0 0 1 0 0 1
Phosphorus, Inc. 0 0 1 0 0 1
Gharavi Laboratory,Columbia University 0 1 0 0 0 1

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