ClinVar Miner

Variants studied for muscular channelopathy

Included ClinVar conditions (41):
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
596 424 5344 3300 578 1 16 63 9583

Gene and significance breakdown #

Total genes and gene combinations: 21
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor not provided total
RYR1 61 120 2416 866 145 0 14 12 3407
CACNA1S 72 40 1171 1141 175 0 1 1 2341
CLCN1 214 129 389 496 35 1 0 10 1196
GH-LCR, SCN4A 61 31 599 370 88 0 0 17 1087
SCN4A 31 13 307 237 56 0 0 10 606
KCNJ2 43 17 257 119 46 0 0 8 474
CNGB3 98 67 94 10 24 0 0 3 270
CLCN1, LOC123956257 12 7 32 32 1 0 0 0 84
LOC126862902, RYR1 1 0 47 18 6 0 1 0 69
LOC129391106, RYR1 0 0 16 11 0 0 0 0 26
LOC130064357, RYR1 0 0 8 0 1 0 0 0 9
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
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: 120
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 388 132 1953 2199 276 0 0 0 4948
All of Us Research Program, National Institutes of Health 12 13 2492 1002 84 0 0 0 3603
Fulgent Genetics, Fulgent Genetics 42 42 726 189 30 0 0 0 1029
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 38 19 0 0 0 0 0 0 57
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
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
Juno Genomics, Hangzhou Juno Genomics, Inc 5 8 11 0 0 0 0 0 24
Neuberg Centre For Genomic Medicine, NCGM 7 5 11 0 0 0 0 0 23
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
Athena Diagnostics 0 0 0 0 22 0 0 0 22
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 21 21
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 5 7 6 0 0 0 0 0 18
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 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
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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 2 0 0 0 0 0 5
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
MVZ Medizinische Genetik Mainz 0 1 4 0 0 0 0 0 5
DASA 2 2 0 0 0 0 0 0 4
Arcensus 0 2 2 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
Institute of Human Genetics, University of Wuerzburg 0 1 2 0 0 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 2 0 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
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
Clinical Genetics and Genomics, Karolinska University Hospital 2 0 0 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
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
James Dowling Lab, The Hospital For Sick Children 2 0 0 0 0 0 0 0 2
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 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
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
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 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
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 0 0 1

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