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
243 131 937 803 202 13 2229

Gene and significance breakdown #

Total genes and gene combinations: 39
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MTM1 178 75 129 265 66 2 674
BIN1 8 6 339 279 39 2 633
CCDC78 1 1 293 232 31 2 555
DNM2 14 6 54 10 47 1 124
ASIC4, SPEG 6 5 28 1 7 1 45
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
FLNA 0 0 1 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 72 19 715 767 123 0 1696
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 2 14 4 1 0 22
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
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 2 3 0 1 0 8
MGZ Medical Genetics Center 3 2 2 0 0 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, Medical Genetics 4 1 1 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 2 0 4 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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 4 0 1 0 0 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
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
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 Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 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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