ClinVar Miner

Variants studied for centronuclear myopathy

Included ClinVar conditions (15):
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
206 94 862 752 196 12 2031

Gene and significance breakdown #

Total genes and gene combinations: 25
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MTM1 169 69 116 258 66 2 644
BIN1 8 6 310 257 39 2 582
CCDC78 1 1 272 210 30 2 511
DNM2 12 5 53 10 43 1 119
ASIC4, SPEG 5 4 25 1 7 1 40
MYF6 0 0 26 12 3 0 39
SPEG 3 1 29 1 2 1 37
BIN1, LOC122819150 0 0 13 1 0 0 14
MAP3K20 3 0 0 1 5 0 9
DNM2, LOC130063529 0 0 6 0 0 0 6
MTMR14 0 1 4 1 0 0 6
RYR1 0 4 0 0 0 2 6
TTN 2 2 0 0 0 1 5
BIN1, LOC112806045 0 0 2 0 0 0 2
ACTA1 0 1 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
CYP1B1 0 0 1 0 0 0 1
LOC130068796, MTM1 1 0 0 0 0 0 1
MAMLD1, MTM1 0 0 1 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

Submitter and significance breakdown #

Total submitters: 59
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 62 18 648 716 122 0 1566
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
Natera, Inc. 1 0 13 22 5 0 41
Genome-Nilou Lab 0 0 0 0 34 0 34
OMIM 31 0 1 0 0 0 32
Baylor Genetics 7 4 18 0 0 0 29
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
MGZ Medical Genetics Center 3 2 2 0 0 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 1 0 0 0 0 7
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 2 2 0 1 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 1 1 0 0 0 6
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 6 0 0 0 0 0 6
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 4 2 0 0 0 0 6
3billion 3 1 2 0 0 0 6
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 6 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
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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 4 0 0 0 0 0 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
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
Neuberg Centre For Genomic Medicine, NCGM 2 0 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
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
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
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 1 0 0 0 0 1

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