ClinVar Miner

Variants studied for TPM2-related myopathy

Included ClinVar conditions (23):
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
155 147 1040 289 147 39 1749

Gene and significance breakdown #

Total genes and gene combinations: 23
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
RYR1 102 99 666 146 76 19 1063
TPM3 11 11 168 88 26 8 301
MYH7 13 12 98 27 5 2 157
TPM2 8 4 18 6 8 1 43
ACTA1 2 4 14 4 13 7 42
LOC126861897, MHRT, MYH7 0 1 24 2 2 1 30
LOC126862902, RYR1 2 2 11 6 6 0 25
SELENON 6 6 6 1 0 1 17
MHRT, MYH7 0 1 12 3 1 0 16
LOC129391106, RYR1 1 1 7 4 2 0 13
LOC126861898, MYH7 1 5 6 0 0 0 12
​intergenic 8 0 0 0 0 0 8
LOC130064357, RYR1 0 0 5 1 0 0 6
LOC126861897, MYH7 0 0 3 1 0 0 4
ACTA1, LOC122152321 0 0 1 0 2 0 3
MYL2 1 1 0 0 0 0 2
ANTXR2 0 0 0 0 1 0 1
ATP13A4 0 0 0 0 1 0 1
CLN8 0 0 0 0 1 0 1
CRX 0 0 0 0 1 0 1
LOC130064350, RYR1 0 0 1 0 0 0 1
MEFV 0 0 0 0 1 0 1
PPT1 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 73
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 35 45 547 76 32 0 735
Illumina Laboratory Services, Illumina 0 2 368 145 103 0 618
Invitae 10 9 60 72 5 0 156
GeneReviews 62 0 0 0 4 27 92
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 12 32 0 0 0 46
Baylor Genetics 4 0 30 0 0 0 34
Genome-Nilou Lab 0 0 0 0 33 0 33
Neuberg Centre For Genomic Medicine, NCGM 5 3 16 0 0 0 24
MGZ Medical Genetics Center 6 5 11 0 0 0 22
OMIM 19 0 0 0 0 0 19
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 4 2 10 0 0 0 16
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 6 3 0 6 0 15
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 4 6 4 0 0 0 14
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 10 1 0 0 0 13
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 5 0 0 0 7
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 6 6
Center for Genetic Medicine Research, Children's National Medical Center 0 5 0 0 0 0 5
Pediatric Department, Peking University First Hospital 2 3 0 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 1 2 2 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 5 5
3billion 1 2 2 0 0 0 5
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 1 0 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 1 0 0 0 4
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 4 0 0 0 0 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 3 0 0 0 0 4
Genetic Services Laboratory, University of Chicago 2 1 0 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 2 1 0 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 2 1 0 0 0 0 3
CSER _CC_NCGL, University of Washington 0 0 2 1 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 2 1 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 2 0 0 0 0 3
Undiagnosed Diseases Network, NIH 0 3 0 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 1 1 1 0 0 0 3
Breda Genetics srl 2 0 1 0 0 0 3
New York Genome Center 0 0 3 0 0 0 3
Department of Pathophysiology and Transplantation, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico 3 0 0 0 0 0 3
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 3 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 1 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 0 2
Harry Perkins Institute Of Medical Research, University Of Western Australia 0 1 1 0 0 0 2
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 2 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 1 1 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 0 0 0 0 2
Genetic Diseases Diagnostic Center, Koc University Hospital 0 2 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 1 0 0 0 2
Center of Excellence for Medical Genomics, Chulalongkorn University 0 2 0 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 2 0 0 0 0 2
Suma Genomics 0 1 1 0 0 0 2
Department of Pediatrics, The University of Tokyo 1 1 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
Mendelics 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 0 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 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 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
The Morris Kahn Laboratory of Human Genetics, Ben-Gurion University of the Negev 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
DASA 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 1 0 0 0 0 1
Arcensus 0 0 1 0 0 0 1

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