ClinVar Miner

Variants studied for TPM2-related myopathy

Included ClinVar conditions (17):
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 risk factor not provided total
123 129 720 163 98 4 11 1193

Gene and significance breakdown #

Total genes and gene combinations: 14
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
RYR1 102 121 680 146 76 4 10 1090
TPM2 8 4 16 6 8 0 1 41
LOC126862902, RYR1 3 2 11 6 6 0 0 26
LOC129391106, RYR1 1 1 7 4 2 0 0 13
​intergenic 8 0 0 0 0 0 0 8
LOC130064357, RYR1 0 0 4 1 0 0 0 5
CYB5R3 1 1 1 0 0 0 0 3
ANTXR2 0 0 0 0 1 0 0 1
ATP13A4 0 0 0 0 1 0 0 1
CLN8 0 0 0 0 1 0 0 1
CRX 0 0 0 0 1 0 0 1
LOC130064350, RYR1 0 0 1 0 0 0 0 1
MEFV 0 0 0 0 1 0 0 1
PPT1 0 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 67
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Fulgent Genetics, Fulgent Genetics 26 51 412 40 24 0 0 553
Illumina Laboratory Services, Illumina 0 2 248 127 68 0 0 445
GeneReviews 62 0 0 0 4 0 1 67
Neuberg Centre For Genomic Medicine, NCGM 5 3 24 0 0 0 0 32
Genome-Nilou Lab 0 0 0 0 31 0 0 31
Baylor Genetics 3 0 26 0 0 0 0 29
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 7 7 12 0 0 0 0 26
MGZ Medical Genetics Center 5 5 10 0 0 0 0 20
OMIM 15 0 0 0 0 4 0 19
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 5 6 4 0 0 0 0 15
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 10 1 0 0 0 0 13
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 4 3 0 6 0 0 13
Juno Genomics, Hangzhou Juno Genomics, Inc 1 3 6 0 0 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 5 0 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 5 0 0 0 0 6
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 6 6
Center for Genetic Medicine Research, Children's National Medical Center 0 5 0 0 0 0 0 5
3billion, Medical Genetics 1 2 2 0 0 0 0 5
Institute of Human Genetics, University of Goettingen 0 2 2 0 0 0 0 4
Pediatric Department, Peking University First Hospital 1 3 0 0 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 1 0 0 0 0 4
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 4 0 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 1 2 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 0 4 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 3 0 0 0 0 0 4
MVZ Medizinische Genetik Mainz 0 0 4 0 0 0 0 4
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 2 1 0 0 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 1 0 0 0 0 0 3
CSER _CC_NCGL, University of Washington 0 0 2 1 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 2 1 0 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 1 1 1 0 0 0 0 3
New York Genome Center 0 0 3 0 0 0 0 3
Department of Pathophysiology and Transplantation, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico 3 0 0 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 1 0 0 0 0 0 2
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 2 0 0 0 0 0 2
Institute of Human Genetics, University of Wuerzburg 0 1 1 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 1 1 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 0 0 0 0 0 2
Breda Genetics srl 1 0 1 0 0 0 0 2
Genetic Diseases Diagnostic Center, Koc University Hospital 0 2 0 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 1 0 0 0 0 2
Center of Excellence for Medical Genomics, Chulalongkorn University 0 2 0 0 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 2 0 0 0 0 0 2
Suma Genomics 0 1 1 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 0 1
Mendelics 0 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 0 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 0 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 1 0 0 0 0 0 1
Arcensus 0 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 0 1

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