ClinVar Miner

Variants studied for RYR1-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
173 175 1115 289 162 38 1824

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 127 130 754 150 97 19 1173
TPM3 11 11 168 88 26 8 301
MYH7 13 12 98 27 5 2 157
ACTA1 2 4 14 4 13 7 42
LOC126861897, MHRT, MYH7 0 1 24 2 2 1 30
LOC126862902, RYR1 3 3 13 6 7 0 28
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 6 1 1 0 7
LOC126861897, MYH7 0 0 3 1 0 0 4
TPM2 0 0 2 2 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: 79
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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 2 433 145 121 0 641
Invitae 10 9 60 72 5 0 156
GeneReviews 62 0 0 0 4 26 91
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 12 32 0 0 0 46
Baylor Genetics 7 2 34 0 0 0 43
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 3 14 13 0 6 0 36
Genome-Nilou Lab 0 0 0 0 33 0 33
OMIM 29 0 0 0 0 0 29
Neuberg Centre For Genomic Medicine, NCGM 5 3 16 0 0 0 24
MGZ Medical Genetics Center 5 5 12 0 0 0 22
Pediatric Department, Peking University First Hospital 4 14 3 0 0 0 21
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 4 8 4 0 0 0 16
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 4 2 10 0 0 0 16
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 10 1 0 0 0 13
Molecular Genetics, Royal Melbourne Hospital 2 0 10 0 0 0 12
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 7 3 0 0 0 0 10
3billion 3 3 4 0 0 0 10
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 4 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 1 2 3 0 0 0 6
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 6 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 2 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Centogene AG - the Rare Disease Company 2 0 2 0 0 0 4
Center for Genetic Medicine Research, Children's National Medical Center 0 4 0 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 1 1 2 0 0 0 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 3 0 0 0 0 4
New York Genome Center 0 1 3 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 2 0 0 0 4
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 0 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
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 3 0 0 0 0 3
Undiagnosed Diseases Network, NIH 0 3 0 0 0 0 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 2 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
Genetic Services Laboratory, University of Chicago 1 1 0 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 1 0 0 0 2
Harry Perkins Institute Of Medical Research, University Of Western Australia 0 1 1 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 2 0 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
Breda Genetics srl 1 0 1 0 0 0 2
Genetic Diseases Diagnostic Center, Koc University Hospital 0 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 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 2 0 0 0 0 0 2
Center of Excellence for Medical Genomics, Chulalongkorn University 0 2 0 0 0 0 2
Lifecell International Pvt. Ltd 1 1 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
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 1 1 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 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 Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan 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
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
Human Genetics Bochum, Ruhr University Bochum 0 1 0 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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