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
41 56 260 126 44 1 434

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 55 6 0 222
Cardiomyopathy 4 8 83 51 9 0 152
not provided 22 29 45 36 33 0 150
not specified 0 0 46 31 17 0 85
Familial hypertrophic cardiomyopathy 7 12 3 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
Dilated cardiomyopathy 1FF 2 2 0 0 0 0 4
Restrictive cardiomyopathy 3 1 0 0 0 0 4
Restrictive cardiomyopathy; Hypertrophic cardiomyopathy 4 0 0 0 0 0 4
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: 50
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Invitae 16 7 126 53 6 0 208
GeneDx 18 21 29 36 41 0 144
Color Health, Inc 0 5 76 50 8 0 139
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
Clinical Genetics,Academic Medical Center 4 1 1 0 10 0 16
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 9 1 4 0 16
Human Genetics - Radboudumc,Radboudumc 4 1 1 6 3 0 15
Stanford Center for Inherited Cardiovascular Disease, Stanford University 2 7 4 1 0 0 14
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 1 1 6 3 0 12
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 3 2 7 0 0 0 12
CeGaT Praxis fuer Humangenetik Tuebingen 2 0 6 2 0 0 10
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 1 3 2 1 2 0 9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 3 2 1 3 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
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 2 2 0 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 1 1 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
Mayo Clinic Laboratories, Mayo Clinic 1 0 1 0 0 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 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
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 1 0 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects,Beijing Children's Hospital 0 1 0 0 0 0 1

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