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
26 80 522 372 94 32 955

Condition and significance breakdown #

Total conditions: 23
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hypertrophic cardiomyopathy 15 27 311 234 9 0 577
not provided 16 23 109 86 71 26 294
Cardiomyopathy 3 8 94 123 12 0 235
Cardiovascular phenotype 4 15 103 52 3 0 175
not specified 0 0 58 58 33 1 135
Dilated cardiomyopathy 1Y 5 10 39 3 2 2 59
Hypertrophic cardiomyopathy 3 6 8 39 1 4 3 57
Hypertrophic cardiomyopathy 3; Dilated cardiomyopathy 1Y 1 2 24 5 1 0 33
Primary dilated cardiomyopathy 3 12 9 0 0 0 23
TPM1-related disorder 1 1 5 10 1 0 18
Primary familial hypertrophic cardiomyopathy 2 2 7 0 0 0 11
Hypertrophic cardiomyopathy 1 0 2 2 0 1 0 5
Dilated Cardiomyopathy, Dominant 0 0 2 2 0 0 4
Left ventricular noncompaction 9 4 0 0 0 0 0 4
Left ventricular noncompaction cardiomyopathy 0 1 2 0 0 0 3
Familial cardiomyopathy 1 0 1 0 0 0 2
Atrial septal defect 1 0 1 0 0 0 0 1
Effort-induced polymorphic ventricular tachycardia 0 1 0 0 0 0 1
Hypertrophic cardiomyopathy 21 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
See cases 0 0 1 0 0 0 1
Tetralogy of Fallot 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 79
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 15 16 272 206 9 0 518
GeneDx 13 11 86 56 78 0 244
Color Diagnostics, LLC DBA Color Health 1 2 69 119 11 0 202
Ambry Genetics 4 11 95 52 3 0 165
All of Us Research Program, National Institutes of Health 1 3 67 72 5 0 148
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 18 48 23 7 1 100
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 2 4 34 9 3 0 52
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 1 5 14 16 12 0 48
Breakthrough Genomics, Breakthrough Genomics 0 0 2 22 24 0 48
Illumina Laboratory Services, Illumina 1 1 27 5 3 0 35
CeGaT Center for Human Genetics Tuebingen 0 3 4 23 3 0 33
Leiden Muscular Dystrophy (TPM1) 0 0 0 0 0 31 31
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 3 2 1 16 6 0 28
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 10 7 7 0 27
Fulgent Genetics, Fulgent Genetics 0 0 18 5 1 0 24
Clinical Genetics, Academic Medical Center 5 1 2 0 15 0 23
Blueprint Genetics 2 4 13 1 0 0 20
PreventionGenetics, part of Exact Sciences 0 1 5 10 3 0 19
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 1 2 5 9 0 19
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 1 2 9 3 0 16
Stanford Center for Inherited Cardiovascular Disease, Stanford University 1 3 12 0 0 0 16
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 1 3 6 1 0 13
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 6 0 0 0 10
OMIM 9 0 0 0 0 0 9
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 2 6 0 0 9
3billion 1 2 4 0 0 0 7
Clinical Genetics Laboratory, Skane University Hospital Lund 2 2 2 0 0 0 6
Baylor Genetics 1 2 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
Mayo Clinic Laboratories, Mayo Clinic 0 1 3 0 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
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 4 0 0 0 4
New York Genome Center 0 2 2 0 0 0 4
AiLife Diagnostics, AiLife Diagnostics 0 1 3 0 0 0 4
Cohesion Phenomics 0 0 0 2 3 0 4
Revvity Omics, Revvity 1 0 2 0 0 0 3
Mendelics 0 1 1 0 1 0 3
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 1 1 1 0 0 0 3
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 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
Genetics and Molecular Pathology, SA Pathology 1 0 2 0 0 0 3
KTest Genetics, KTest 1 2 0 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 1 0 2 0 0 0 3
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 2 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 1 0 0 0 2
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 1 1 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 2 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 2 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 1 0 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
Genome-Nilou Lab 0 0 0 0 2 0 2
KardioGenetik, Herz- und Diabeteszentrum NRW 1 0 1 0 0 0 2
MGZ Medical Genetics Center 1 0 0 0 0 0 1
Eurofins Ntd Llc (ga) 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 Wuerzburg 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 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
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 0 1 0 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 0 1 0 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
ICMR Centre for Advanced Research and Excellence in Heart Failure, Sree Chitra Tirunal Institute for Medical Sciences & Technology, KERALA, INDIA 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1

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