ClinVar Miner

Variants in gene combination LOC126862902, RYR1

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Minimum submission review status: Collection method:
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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 not provided total
8 12 109 86 16 1 10 204

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
RYR1-related disorder 4 4 59 74 10 0 0 148
Malignant hyperthermia, susceptibility to, 1 0 0 52 18 6 1 0 75
not provided 3 3 32 13 11 0 10 59
Congenital multicore myopathy with external ophthalmoplegia 2 2 8 3 6 0 0 21
Central core myopathy 1 1 6 5 5 0 0 18
not specified 0 0 4 4 9 0 0 16
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome 0 0 6 1 3 0 0 10
Neuromuscular disease, congenital, with uniform type 1 fiber 0 0 2 5 2 0 0 9
Inborn genetic diseases 0 0 7 0 0 0 0 7
King Denborough syndrome 0 0 0 0 5 0 0 5
Malignant hyperthermia of anesthesia 0 0 3 1 1 0 0 5
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; King Denborough syndrome 2 1 1 0 0 0 0 4
RYR1-related myopathy 0 0 1 0 2 0 0 3
Congenital myopathy with fiber type disproportion 0 1 1 0 0 0 0 2
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion 0 0 1 0 0 0 0 1
Centronuclear myopathy 1 0 0 0 0 0 0 1
Malignant hypothermia 0 0 0 0 1 0 0 1
Multiminicore myopathy 0 0 0 1 0 0 0 1
Myopathy 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 4 4 57 73 10 0 0 148
All of Us Research Program, National Institutes of Health 0 0 44 16 1 0 0 61
GeneDx 2 2 14 7 11 0 0 36
PreventionGenetics, part of Exact Sciences 2 0 6 4 9 0 0 21
Revvity Omics, Revvity 2 1 14 0 0 0 0 17
Fulgent Genetics, Fulgent Genetics 2 1 7 1 3 0 0 14
Illumina Laboratory Services, Illumina 0 0 7 5 3 0 0 14
Breakthrough Genomics, Breakthrough Genomics 0 0 0 5 8 0 0 13
Color Diagnostics, LLC DBA Color Health 0 0 4 1 6 0 0 11
CeGaT Center for Human Genetics Tuebingen 0 0 3 5 3 0 0 11
RYR1 database 0 0 0 0 0 0 10 10
Ambry Genetics 0 0 7 0 0 0 0 7
Eurofins Ntd Llc (ga) 0 0 2 1 4 0 0 7
Genetic Services Laboratory, University of Chicago 0 0 1 0 4 0 0 5
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 1 4 0 0 5
Genome-Nilou Lab 0 0 0 0 5 0 0 5
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen 0 0 3 1 1 0 0 5
Athena Diagnostics 0 0 1 1 2 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 1 0 2 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 3 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 0 0 3
OMIM 1 0 0 0 0 1 0 2
Baylor Genetics 0 1 1 0 0 0 0 2
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 0 1 1 0 0 2
Clinical Genetics, Academic Medical Center 0 0 0 0 2 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 2 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 1 0 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 2 0 0 0 2
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire 1 1 0 0 0 0 0 2
ClinGen Congenital Myopathies Variant Curation Expert Panel, ClinGen 0 0 0 0 2 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 0 1
3billion 0 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 0 1

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