ClinVar Miner

Variants studied for Central core myopathy

Coded as:
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 total
95 75 345 124 82 4 704

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
RYR1 84 72 334 117 69 4 660
LOC126862902, RYR1 1 1 6 5 5 0 18
​intergenic 8 0 0 0 0 0 8
LOC129391106, RYR1 1 1 2 1 2 0 6
CYB5R3 1 1 1 0 0 0 3
LOC130064357, RYR1 0 0 1 1 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: 55
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Illumina Laboratory Services, Illumina 0 1 236 123 60 0 420
GeneReviews 62 0 0 0 4 0 66
Genome-Nilou Lab 0 0 0 0 31 0 31
Neuberg Centre For Genomic Medicine, NCGM 5 3 22 0 0 0 30
Baylor Genetics 3 0 25 0 0 0 28
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 7 6 12 0 0 0 25
MGZ Medical Genetics Center 4 5 10 0 0 0 19
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 4 3 0 6 0 13
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 4 5 4 0 0 0 13
OMIM 8 0 0 0 0 4 12
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 10 1 0 0 0 12
3billion 1 5 5 0 0 0 11
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 5 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 4 0 0 0 5
Institute of Human Genetics, University of Goettingen 0 2 2 0 0 0 4
Center for Genetic Medicine Research, Children's National Medical Center 0 4 0 0 0 0 4
Pediatric Department, Peking University First Hospital 1 3 0 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 1 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 3 1 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 1 2 0 0 0 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 3 0 0 0 0 4
MVZ Medizinische Genetik Mainz 0 0 4 0 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 1 0 0 0 0 3
CSER _CC_NCGL, University of Washington 0 0 2 1 0 0 3
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 3 0 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 1 1 1 0 0 0 3
Department of Pathophysiology and Transplantation, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico 3 0 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 0 2
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 2 0 0 0 0 2
Institute of Human Genetics, University of Wuerzburg 0 1 1 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
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 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
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
Center of Genomic medicine, Geneva, University Hospital of Geneva 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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 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
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 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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