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
17 53 267 155 33 32 471

Condition and significance breakdown #

Total conditions: 21
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hypertrophic cardiomyopathy 7 13 115 41 6 0 176
Cardiomyopathy 2 6 54 86 13 0 158
not provided 10 19 55 22 13 26 129
not specified 0 0 59 45 14 1 112
Dilated cardiomyopathy 1Y 4 3 30 3 1 2 41
Familial hypertrophic cardiomyopathy 3 4 2 30 1 3 3 40
Cardiovascular phenotype 2 3 14 5 3 0 27
Primary dilated cardiomyopathy 1 10 4 0 0 0 15
Primary familial hypertrophic cardiomyopathy 2 3 7 0 0 0 12
Familial hypertrophic cardiomyopathy 1 0 2 2 0 1 0 5
Cardiomyopathy, left ventricular noncompaction 0 1 3 0 0 0 4
Dilated Cardiomyopathy, Dominant 0 0 2 2 0 0 4
Left ventricular noncompaction 9 4 0 0 0 0 0 4
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 3; Dilated cardiomyopathy 1Y 1 0 0 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
none provided 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 7 3 110 43 6 0 169
Color Health, Inc 1 0 44 85 11 0 141
GeneDx 10 13 44 35 23 0 125
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 17 48 23 7 1 99
Illumina Clinical Services Laboratory,Illumina 0 0 27 5 3 0 33
Leiden Muscular Dystrophy (TPM1) 0 0 0 0 0 31 31
Ambry Genetics 2 3 14 5 3 0 27
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 1 3 11 2 3 0 20
Blueprint Genetics 2 4 14 1 0 0 20
Stanford Center for Inherited Cardiovascular Disease, Stanford University 1 3 12 0 0 0 16
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 3 5 1 2 0 11
OMIM 9 0 0 0 0 0 9
Integrated Genetics/Laboratory Corporation of America 2 0 5 0 0 0 7
Center for Human Genetics,University of Leuven 0 2 3 0 0 0 5
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 3 1 0 0 5
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 3 2 0 0 0 5
Baylor Genetics 1 2 2 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 2 2 0 0 4
Evolutionary and Medical Genetics Laboratory, Centre for Cellular and Molecular Biology 0 1 3 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 3 0 0 0 4
PreventionGenetics, PreventionGenetics 0 0 0 0 3 0 3
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 1 1 1 0 0 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/Clinical Genomics Section,National Institutes of Health 0 0 2 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 1 1 0 0 0 2
Mendelics 0 1 0 0 1 0 2
Broad Institute Rare Disease Group, Broad Institute 0 0 2 0 0 0 2
Klaassen Lab,Charite University Medicine Berlin 0 1 1 0 0 0 2
Genetics and Genomics Program,Sidra Medicine 0 0 2 0 0 0 2
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 1 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 1 0 0 0 1
Center for Medical Genetics Ghent,University of Ghent 0 1 0 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
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Phosphorus, Inc. 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1

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