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 46 180 91 29 32 331

Condition and significance breakdown #

Total conditions: 21
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 10 17 55 34 18 26 143
not specified 0 0 59 45 13 1 110
Hypertrophic cardiomyopathy 7 10 69 18 0 0 101
Cardiomyopathy 1 4 12 10 4 0 31
Cardiovascular phenotype 1 4 14 5 3 0 27
Dilated Cardiomyopathy, Dominant 0 0 15 5 0 0 20
Primary dilated cardiomyopathy 1 10 2 0 0 0 13
Primary familial hypertrophic cardiomyopathy 2 3 7 0 0 0 12
Familial hypertrophic cardiomyopathy 3 4 1 2 0 0 3 7
Dilated cardiomyopathy 1Y 2 1 1 0 0 2 4
Left ventricular noncompaction 9 4 0 0 0 0 0 4
Familial hypertrophic cardiomyopathy 1 0 1 1 0 1 0 3
Left ventricular noncompaction cardiomyopathy 0 1 2 0 0 0 3
Atrial septal defect 1 0 1 0 0 0 0 1
Catecholaminergic polymorphic ventricular tachycardia type 1 0 0 1 0 0 0 1
Dilated cardiomyopathy 0 1 0 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

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 10 13 44 35 23 0 125
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 3 16 50 23 6 1 99
Invitae 6 1 50 32 6 0 95
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 1 1 0 8
Integrated Genetics/Laboratory Corporation of America 2 0 3 0 0 0 5
Center for Human Genetics,University of Leuven 0 2 3 0 0 0 5
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 3 2 0 0 0 5
Evolutionary and Medical Genetics Laboratory, Centre for Cellular and Molecular Biology 0 1 3 0 0 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 3 1 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 1 0 0 3
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
Baylor Genetics 1 0 1 0 0 0 2
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 2 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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 0 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
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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