ClinVar Miner

Variants in gene TNNI3

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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 risk factor total
40 53 250 107 21 1 395

Condition and significance breakdown #

Total conditions: 22
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Hypertrophic cardiomyopathy 16 20 135 39 6 0 206
Cardiomyopathy 4 8 72 50 9 0 140
not provided 20 27 43 18 6 0 106
not specified 0 0 46 34 14 0 85
Familial hypertrophic cardiomyopathy 7 12 2 15 5 2 1 35
Familial restrictive cardiomyopathy 1 7 1 12 7 1 0 28
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 0 0 16 9 0 0 25
Cardiovascular phenotype 4 3 10 3 3 0 23
Dilated cardiomyopathy 2A 2 0 19 2 0 0 23
Primary familial hypertrophic cardiomyopathy 4 5 4 0 0 0 12
Familial restrictive cardiomyopathy 0 1 5 3 0 0 9
Dilated Cardiomyopathy, Recessive 0 0 5 3 0 0 8
Primary dilated cardiomyopathy 2 3 3 0 0 0 7
Familial hypertrophic cardiomyopathy 1 0 1 2 0 2 0 5
Restrictive cardiomyopathy 3 1 0 0 0 0 4
Restrictive cardiomyopathy; Hypertrophic cardiomyopathy 4 0 0 0 0 0 4
Dilated cardiomyopathy 1FF 2 1 0 0 0 0 3
none provided 0 0 1 1 1 0 3
Dilated cardiomyopathy 2A; Familial restrictive cardiomyopathy 1; Dilated cardiomyopathy 1FF; Familial hypertrophic cardiomyopathy 7 2 1 0 0 0 0 2
Amyloidogenic transthyretin amyloidosis; Cardiomyopathy 0 0 0 0 1 0 1
Familial restrictive cardiomyopathy 1; Dilated cardiomyopathy 1FF; Familial hypertrophic cardiomyopathy 7 0 1 0 0 0 0 1
Sudden cardiac arrest 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Invitae 16 7 126 40 6 0 195
Color Health, Inc 0 5 65 49 8 0 127
GeneDx 18 19 27 26 14 0 104
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 10 17 37 17 4 0 85
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 4 5 12 2 3 0 26
Illumina Clinical Services Laboratory,Illumina 0 0 22 9 2 0 25
Ambry Genetics 4 2 10 3 3 0 22
Blueprint Genetics 5 4 8 0 0 0 17
OMIM 15 0 0 0 0 1 16
Integrated Genetics/Laboratory Corporation of America 1 1 9 1 4 0 16
Stanford Center for Inherited Cardiovascular Disease,Stanford University 2 7 4 1 0 0 14
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 3 2 7 0 0 0 12
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 1 3 2 1 2 0 9
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 6 2 0 0 9
Center for Human Genetics,University of Leuven 3 2 1 0 0 0 6
Baylor Genetics 2 0 2 0 0 0 4
PreventionGenetics, PreventionGenetics 0 0 0 2 2 0 4
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 0 0 4 0 4
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 1 1 0 3
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 2 1 0 0 0 0 3
Klaassen Lab,Charite University Medicine Berlin 1 1 1 0 0 0 3
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 1 0 0 1 1 0 3
Mendelics 0 0 0 0 2 0 2
Fulgent Genetics,Fulgent Genetics 2 0 0 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 2 0 0 0 0 0 2
CSER _CC_NCGL, University of Washington 0 1 1 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 1 0 0 0 0 1
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 1 0 0 1
Institute of Human Genetics,Cologne University 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 1 0 0 0 0 0 1
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 0 1 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 1 0 0 0 1
Erich and Hanna Klessmann Institute for Cardiovascular Research and Development,Heart and Diabetes Center North Rhine-Westphalia 0 1 0 0 0 0 1
Institute of Human Genetics,University of Wuerzburg 0 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 1
Heart Center,Academic Medical Center Amsterdam 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 1 0 0 0 0 1

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