ClinVar Miner

Variants studied for Congenital multicore myopathy with external ophthalmoplegia

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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 total
36 35 298 43 99 510

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
RYR1 34 32 287 39 91 482
LOC126862902, RYR1 2 2 7 3 6 20
LOC129391106, RYR1 0 0 1 1 1 3
LOC130064357, RYR1 0 0 2 0 1 3
LOC126806433, TTN 0 1 0 0 0 1
LOC130064350, RYR1 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 1 279 42 86 408
Genome-Nilou Lab 0 0 0 0 31 31
OMIM 14 0 0 0 0 14
Baylor Genetics 3 3 5 0 0 11
Pediatric Department, Peking University First Hospital 1 7 3 0 0 11
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 8 0 0 0 9
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 2 0 0 0 6
3billion 3 0 2 1 0 6
Neuberg Centre For Genomic Medicine, NCGM 1 1 3 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 4 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 3 0 0 0 3
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire 0 3 0 0 0 3
Centogene AG - the Rare Disease Company 1 0 1 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 1 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 1
James R Lupski Laboratory, Baylor College Of Medicine 0 1 0 0 0 1
New York Genome Center 0 1 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 1
Clinical Genetics Laboratory, Exon Genomics 1 0 0 0 0 1

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