ClinVar Miner

Variants studied for congenital multicore myopathy with external ophthalmoplegia

Included ClinVar conditions (7):
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
48 66 677 79 104 5 957

Gene and significance breakdown #

Total genes and gene combinations: 6
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
RYR1 46 63 653 71 95 5 913
LOC126862902, RYR1 2 2 12 4 7 0 26
LOC129391106, RYR1 0 0 6 4 1 0 10
LOC130064357, RYR1 0 0 5 0 1 0 6
LOC126806433, TTN 0 1 0 0 0 0 1
LOC130064350, RYR1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 39
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 17 29 408 38 24 0 516
Illumina Laboratory Services, Illumina 0 1 279 42 86 0 408
Genome-Nilou Lab 0 0 0 0 31 0 31
OMIM 14 0 0 0 0 0 14
Baylor Genetics 3 3 5 0 0 0 11
Pediatric Department, Peking University First Hospital 1 7 3 0 0 0 11
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 8 0 0 0 0 9
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 6 0 0 0 8
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 2 0 0 0 0 6
3billion 3 0 2 1 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 1 1 3 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 4 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
New York Genome Center 0 1 3 0 0 0 4
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 2 1 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 3 0 0 0 0 3
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire 0 3 0 0 0 0 3
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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 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 0 2
Suma Genomics 0 1 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
James R Lupski Laboratory, Baylor College Of Medicine 0 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Exon Genomics 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.