ClinVar Miner

Variants studied for muscular channelopathy

Included ClinVar conditions (42):
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 affects risk factor not provided total
633 535 6313 3748 579 1 16 63 11017

Gene and significance breakdown #

Total genes and gene combinations: 22
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor not provided total
RYR1 64 141 2835 1038 145 0 14 12 4000
CACNA1S 80 55 1460 1299 176 0 1 1 2753
CLCN1 226 166 441 525 35 1 0 10 1305
GH-LCR, SCN4A 64 39 700 423 88 0 0 17 1237
SCN4A 33 18 370 264 56 0 0 10 697
KCNJ2 47 16 281 125 46 0 0 8 506
CNGB3 100 91 95 10 24 0 0 3 291
CLCN1, LOC123956257 14 8 35 32 1 0 0 0 90
LOC126862902, RYR1 2 1 57 20 6 0 1 0 81
LOC129391106, RYR1 0 0 19 12 0 0 0 0 30
LOC130064357, RYR1 0 0 11 0 1 0 0 0 12
KCNJ2, LOC130061539 0 0 2 0 1 0 0 0 3
ASPH 2 0 0 0 0 0 0 0 2
KCNJ5 0 0 0 0 0 0 0 2 2
​intergenic 0 0 1 0 0 0 0 0 1
ADIPOR1, ADORA1, ARL8A, ASCL5, ATP2B4, AVPR1B, BTG2, C1orf116, C4BPA, C4BPB, CACNA1S, CAMSAP2, CD34, CD46, CD55, CDK18, CHI3L1, CHIT1, CNTN2, CR1, CR1L, CR2, CSRP1, CTSE, CYB5R1, DDX59, DSTYK, DYRK3, EIF2D, ELF3, ELK4, ETNK2, FAM72A, FCAMR, FCMR, FMOD, GOLT1A, GPR25, GPR37L1, IGFN1, IKBKE, IL10, IL19, IL20, IL24, INAVA, IPO9, KDM5B, KIF14, KIF21B, KISS1, KLHDC8A, KLHL12, LAD1, LAX1, LEMD1, LGR6, LMOD1, LRRN2, MAPKAPK2, MDM4, MFSD4A, MIR29B2CHG, MIR29C, MYBPH, MYOG, NAV1, NFASC, NUAK2, NUCKS1, OPTC, PCAT6, PFKFB2, PHLDA3, PIGR, PIK3C2B, PKP1, PLEKHA6, PLXNA2, PM20D1, PPFIA4, PPP1R12B, PPP1R15B, PRELP, PTPN7, RAB29, RABIF, RASSF5, RBBP5, REN, RHEX, RNPEP, SHISA4, SLC26A9, SLC41A1, SLC45A3, SNRPE, SOX13, SRGAP2, SYT2, TIMM17A, TMCC2, TMEM183A, TMEM81, TMEM9, TNNI1, TNNT2, UBE2T, YOD1, ZBED6, ZC3H11A 0 0 1 0 0 0 0 0 1
CD79B, SCN4A 0 0 1 0 0 0 0 0 1
CEP95, DDX5, ERN1, ICAM2, LRRC37A3, MILR1, PECAM1, POLG2, PRR29, SCN4A, SMURF2, TEX2 0 0 1 0 0 0 0 0 1
CLCN1, FAM131B 1 0 0 0 0 0 0 0 1
LOC130064350, RYR1 0 0 1 0 0 0 0 0 1
RANBP2 0 0 1 0 0 0 0 0 1
TRPV1 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 124
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 415 141 2155 2434 277 0 0 0 5422
All of Us Research Program, National Institutes of Health 17 22 3100 1255 87 0 0 0 4481
Fulgent Genetics, Fulgent Genetics 93 166 1139 198 30 0 0 0 1626
Illumina Laboratory Services, Illumina 1 1 533 147 253 0 0 0 921
Genome-Nilou Lab 4 14 116 152 90 0 0 0 376
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen 29 55 220 16 17 0 0 0 337
Color Diagnostics, LLC DBA Color Health 10 8 68 110 130 0 0 0 326
Molecular Genetics Laboratory, Institute for Ophthalmic Research 81 11 6 0 0 0 0 0 98
OMIM 65 0 0 0 0 0 16 0 81
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 5 0 60 6 8 0 0 0 79
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 45 23 0 0 0 0 0 0 68
MGZ Medical Genetics Center 21 10 23 0 0 0 0 0 54
Counsyl 2 33 7 0 0 0 0 0 42
Institute of Human Genetics, University of Leipzig Medical Center 14 12 14 1 1 0 0 0 42
Mendelics 7 6 11 0 16 0 0 0 40
CSER _CC_NCGL, University of Washington 4 1 25 10 0 0 0 0 40
GeneReviews 1 0 0 0 0 0 0 35 36
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences 15 8 13 0 0 0 0 0 36
Molecular Genetics, Royal Melbourne Hospital 12 2 17 2 1 0 0 0 34
Baylor Genetics 8 7 18 0 0 0 0 0 32
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 16 10 5 0 0 1 0 0 32
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 14 15 1 0 0 0 0 0 30
Juno Genomics, Hangzhou Juno Genomics, Inc 6 10 12 0 0 0 0 0 28
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 16 4 7 0 0 0 0 0 27
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 4 5 17 0 0 0 0 0 26
Centre for Mendelian Genomics, University Medical Centre Ljubljana 12 6 8 0 0 0 0 0 26
Neuberg Centre For Genomic Medicine, NCGM 7 6 11 0 0 0 0 0 24
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences 1 13 0 8 1 0 0 0 23
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 21 21
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 6 8 6 0 0 0 0 0 20
Myriad Genetics, Inc. 0 14 2 0 0 0 0 0 16
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 5 1 9 0 0 0 0 0 15
3billion, Medical Genetics 8 2 5 0 0 0 0 0 15
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 10 1 0 0 0 0 0 0 11
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 7 3 1 0 0 0 0 0 11
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 10 0 0 0 0 0 11
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 3 5 0 0 0 0 0 9
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 7 0 0 0 0 0 8
GenomeConnect, ClinGen 0 0 0 0 0 0 0 8 8
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 4 4 0 0 0 0 0 8
Genetics and Molecular Pathology, SA Pathology 2 0 5 0 0 0 0 0 7
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 1 2 0 0 0 0 0 7
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 4 2 0 0 0 0 0 0 6
Revvity Omics, Revvity 4 2 0 0 0 0 0 0 6
MVZ Medizinische Genetik Mainz 0 1 5 0 0 0 0 0 6
deCODE genetics, Amgen 1 4 0 0 0 0 0 0 5
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 4 0 0 0 0 0 5
Laboratory of Genetics in Ophthalmology, Institut Imagine 5 0 0 0 0 0 0 0 5
Institute of Immunology and Genetics Kaiserslautern 2 1 2 0 0 0 0 0 5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 2 0 0 0 0 0 0 4
DASA 2 2 0 0 0 0 0 0 4
Arcensus 0 2 2 0 0 0 0 0 4
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 3 0 1 0 0 0 0 0 4
Institute of Medical Molecular Genetics, University of Zurich 0 3 0 0 0 0 0 0 3
Blueprint Genetics 2 1 0 0 0 0 0 0 3
Clinical Genetics and Genomics, Karolinska University Hospital 2 1 0 0 0 0 0 0 3
Institute of Human Genetics, University of Wuerzburg 0 1 2 0 0 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 1 0 0 0 0 0 3
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 2 0 0 0 0 0 0 3
New York Genome Center 3 0 0 0 0 0 0 0 3
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 3 0 0 0 0 0 0 0 3
Genomics England Pilot Project, Genomics England 2 1 0 0 0 0 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 1 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 1 0 0 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 1 0 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 2 0 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 0 0 0 0 0 0 2
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 1 1 0 0 0 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 2 0 0 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 1 1 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 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 1 1 0 0 0 0 0 0 2
Institute of Human Genetics, Heidelberg University 0 2 0 0 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 1 0 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 1 0 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 1 0 0 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 0 0 0 0 0 0 0 2
Laan Lab, Human Genetics Research Group, University of Tartu 2 0 0 0 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 1 0 1 0 0 0 0 0 2
James Dowling Lab, The Hospital For Sick Children 2 0 0 0 0 0 0 0 2
Solve-RD Consortium 0 2 0 0 0 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 1 0 0 0 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1 0 0 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 1 0 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 0 0 1
Department Of Genetics, Lifeline Super Speciality Hospital, Adoor. 1 0 0 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 0 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 0 0 1
Genetics Laboratory, Department of Biology, Semnan University 1 0 0 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 0 0 1
Division of Medical Genetics, University of Washington 1 0 0 0 0 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 1 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 0 1 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 0 0 1
Laboratory of Molecular Regulation of Neurogenesis, University of Liege 1 0 0 0 0 0 0 0 1
Pars Genome Lab 0 0 0 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 0 0 1
Pediatrics, MediClubGeorgia 0 1 0 0 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 1 0 0 0 0 0 0 0 1
DBGen Ocular Genomics 0 0 1 0 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 1 1
Department of Neuromuscular Diseases, Third Hospital of Hebei Medical University 1 0 0 0 0 0 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 0 1 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 0 0 1

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