ClinVar Miner

Variants studied for centronuclear myopathy

Included ClinVar conditions (16):
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
238 128 868 752 201 13 2104

Gene and significance breakdown #

Total genes and gene combinations: 38
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MTM1 173 72 115 258 66 2 649
BIN1 8 6 310 257 39 2 582
CCDC78 1 1 272 210 30 2 511
DNM2 14 6 53 10 47 1 123
ASIC4, SPEG 6 5 25 1 7 1 42
MYF6 0 0 26 12 3 0 39
SPEG 4 1 30 1 2 1 39
RYR1 9 21 4 0 0 2 36
TTN 2 11 1 0 0 2 15
BIN1, LOC122819150 0 0 13 1 0 0 14
MAP3K20 3 0 0 1 5 0 9
DNM2, LOC130063529 0 0 7 0 1 0 8
MTMR14 0 1 4 1 0 0 6
CACNA1S 3 0 0 0 0 0 3
MAMLD1, MTM1 2 0 1 0 0 0 3
BIN1, LOC112806045 0 0 2 0 0 0 2
TRIP4 2 0 0 0 0 0 2
ACTA1 0 1 0 0 0 0 1
ASCC1 1 0 0 0 0 0 1
BIN1, CYP27C1, ERCC3, GPR17, IWS1, LIMS2, MAP3K2, MYO7B, PROC 0 0 1 0 0 0 1
BIN1, LOC112806045, LOC129934710, LOC129934711, LOC129934712, LOC129934713, LOC129934714 0 0 1 0 0 0 1
CD99L2, GPR50, HMGB3, MAMLD1, MTM1, MTMR1, VMA21 1 0 0 0 0 0 1
CD99L2, GPR50, HMGB3, MTM1, MTMR1, VMA21 0 0 1 0 0 0 1
CFL2 0 1 0 0 0 0 1
CHRNA1 1 0 0 0 0 0 1
CHRND 1 0 0 0 0 0 1
CYP1B1 0 0 1 0 0 0 1
FHL1 1 0 0 0 0 0 1
FOXP3 1 0 0 0 0 0 1
LOC112577517, TOR1AIP1 1 0 0 0 0 0 1
LOC126806423, TTN 1 0 0 0 0 0 1
LOC126862902, RYR1 1 0 0 0 0 0 1
LOC130068796, MTM1 1 0 0 0 0 0 1
MYF6, OTOGL, PPP1R12A, PTPRQ 0 0 1 0 0 0 1
MYOD1 1 0 0 0 0 0 1
NF1 0 0 0 0 1 0 1
OPA1 0 1 0 0 0 0 1
TPM3 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 64
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 65 18 648 716 122 0 1569
Illumina Laboratory Services, Illumina 0 0 112 13 51 0 176
Genetic Services Laboratory, University of Chicago 125 18 13 0 0 0 156
Revvity Omics, Revvity 1 3 74 1 0 0 79
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire 28 29 5 0 0 0 62
Natera, Inc. 1 0 13 22 5 0 41
Genome-Nilou Lab 0 0 0 0 34 0 34
Baylor Genetics 8 6 19 0 0 0 33
OMIM 31 0 1 0 0 0 32
ClinGen Congenital Myopathies Variant Curation Expert Panel, ClinGen 10 3 2 0 10 0 25
Myriad Genetics, Inc. 0 23 0 0 0 0 23
Fulgent Genetics, Fulgent Genetics 1 1 11 4 1 0 18
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 12 0 2 0 0 0 14
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 1 8 0 0 0 11
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 8 1 0 0 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 1 1 0 0 0 8
MGZ Medical Genetics Center 3 2 2 0 0 0 7
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 2 2 0 1 0 7
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 5 2 0 0 0 0 7
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 7 7
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 6 0 0 0 0 0 6
3billion 4 1 1 0 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 4 0 0 0 0 5
Mendelics 2 0 1 0 2 0 5
Pediatric Department, Peking University First Hospital 3 2 0 0 0 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 4 0 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 1 0 0 4
SIB Swiss Institute of Bioinformatics 0 4 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 0 0 0 0 0 3
Breda Genetics srl 0 0 3 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 2 0 1 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 1 0 0 0 2
GeneReviews 0 0 0 0 0 2 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 2 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 1 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 0 0 2
Suma Genomics 0 1 1 0 0 0 2
MVZ Medizinische Genetik Mainz 1 1 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Harry Perkins Institute Of Medical Research, University Of Western Australia 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 0 0 0 0 1
Genetics Laboratory, Department of Biology, Semnan University 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 1
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 0 1 0 0 0 0 1
Department of Pathophysiology and Transplantation, University of Milan 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 1

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