ClinVar Miner

Variants in gene TNNI3

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Minimum submission review status: Collection method:
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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
36 50 131 55 14 1 239

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Hypertrophic cardiomyopathy 12 9 52 21 6 0 96
not specified 0 0 41 33 14 0 80
not provided 19 25 31 1 1 0 72
Cardiomyopathy 3 4 10 11 3 0 31
Primary familial hypertrophic cardiomyopathy 7 18 3 0 0 0 24
Cardiovascular phenotype 4 3 11 3 2 0 23
Familial restrictive cardiomyopathy 0 2 8 4 0 0 14
Dilated Cardiomyopathy, Recessive 0 0 8 4 0 0 12
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 0 0 8 4 0 0 12
Familial hypertrophic cardiomyopathy 7 9 1 1 0 0 1 12
Familial restrictive cardiomyopathy 1 6 1 1 0 0 0 8
Primary dilated cardiomyopathy 1 2 1 0 0 0 4
Cardiomyopathy, restrictive 1 1 0 0 0 0 2
Dilated cardiomyopathy 1FF 2 0 0 0 0 0 2
Dilated cardiomyopathy 2A 1 0 1 0 0 0 2
Dilated cardiomyopathy 2A; Familial restrictive cardiomyopathy 1; Dilated cardiomyopathy 1FF; Familial hypertrophic cardiomyopathy 7 2 1 0 0 0 0 2
Dilated cardiomyopathy 0 1 0 0 0 0 1
Familial hypertrophic cardiomyopathy 1 0 0 1 0 0 0 1
Familial restrictive cardiomyopathy 1; Dilated cardiomyopathy 1FF; Familial hypertrophic cardiomyopathy 7 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
GeneDx 19 19 26 19 9 0 92
Invitae 12 8 43 17 6 0 86
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 8 18 37 17 4 0 84
Ambry Genetics 4 2 11 3 2 0 22
OMIM 15 0 0 0 0 1 16
Color 0 2 4 8 2 0 16
Stanford Center for Inherited Cardiovascular Disease,Stanford University 2 7 4 1 0 0 14
Illumina Clinical Services Laboratory,Illumina 0 0 8 4 0 0 12
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 1 2 6 2 0 0 11
Integrated Genetics/Laboratory Corporation of America 0 1 4 0 3 0 8
Blueprint Genetics, 4 3 1 0 0 0 8
Center for Human Genetics,University of Leuven 3 2 1 0 0 0 6
PreventionGenetics 0 0 0 2 2 0 4
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 0 0 4 0 4
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 1 2 0 0 0 0 3
Fulgent Genetics 2 0 0 0 0 0 2
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 1 1 0 0 0 0 2
CSER_CC_NCGL; University of Washington Medical Center 0 1 1 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 1 0 0 0 0 1
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 1 0 0 0 1
Division of Genomic Diagnostics,The 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
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 1 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,Institute of Human Genetics 0 0 1 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
Erich and Hanna Klessmann Institute for Cardiovascular Research and Development,Heart and Diabetes Center North Rhine-Westphalia 0 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 1

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