ClinVar Miner

Variants in gene TPM1

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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 not provided total
16 41 165 70 16 32 279

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not specified 0 0 60 44 13 1 111
Hypertrophic cardiomyopathy 5 4 57 26 4 0 92
not provided 10 17 54 0 0 26 92
Cardiomyopathy 0 2 12 10 4 0 28
Cardiovascular phenotype 1 4 14 5 3 0 27
Dilated Cardiomyopathy, Dominant 0 0 15 5 0 0 20
Primary familial hypertrophic cardiomyopathy 3 9 7 0 0 0 18
Primary dilated cardiomyopathy 1 10 1 0 0 0 12
Familial hypertrophic cardiomyopathy 3 4 1 0 0 0 3 5
Dilated cardiomyopathy 1Y 2 1 1 0 0 2 4
Left ventricular noncompaction 9 4 0 0 0 0 0 4
Left ventricular noncompaction cardiomyopathy 0 0 2 0 0 0 2
Atrial septal defect 1 0 1 0 0 0 0 1
Catecholaminergic polymorphic ventricular tachycardia type 1 0 0 1 0 0 0 1
Effort-induced polymorphic ventricular tachycardias 0 1 0 0 0 0 1
Familial hypertrophic cardiomyopathy 1 0 0 1 0 0 0 1
Left ventricular noncompaction 0 0 1 0 0 0 1
Pulmonary atresia with intact ventricular septum 0 1 0 0 0 0 1
Tetralogy of Fallot 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 16 50 23 6 1 99
GeneDx 10 13 44 21 11 0 99
Invitae 5 2 39 21 4 0 71
Leiden Muscular Dystrophy (TPM1) 0 0 0 0 0 31 31
Ambry Genetics 1 4 14 5 3 0 27
Blueprint Genetics, 2 4 14 1 0 0 20
Illumina Clinical Services Laboratory,Illumina 0 0 15 5 0 0 20
Stanford Center for Inherited Cardiovascular Disease,Stanford University 1 3 12 0 0 0 16
Color 0 0 2 9 3 0 14
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 1 8 1 0 0 10
OMIM 9 0 0 0 0 0 9
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 2 4 0 0 0 6
Integrated Genetics/Laboratory Corporation of America 1 0 4 0 0 0 5
Center for Human Genetics,University of Leuven 0 2 3 0 0 0 5
Evolutionary and Medical Genetics Laboratory, Centre for Cellular and Molecular Biology 0 1 3 0 0 0 4
PreventionGenetics 0 0 0 0 3 0 3
Laboratory of Research in Genomics, Genetics and Bioinformatics,Hospital Infantil de Mexico Federico Gomez 0 3 0 0 0 0 3
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 2 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 2 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 0 0 0 2
Baylor Miraca Genetics Laboratories, 0 0 1 0 0 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 0 0 0 0 1
CSER_CC_NCGL; University of Washington Medical Center 0 0 1 0 0 0 1
Center for Medical Genetics Ghent,University of Ghent 0 1 0 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 1 0 0 0 1
Laboratory of Genetics and Molecular Cardiology,University of São Paulo 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 1
Phosphorus, Inc. 1 0 0 0 0 0 1

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