ClinVar Miner

Variants studied for centronuclear myopathy

Included ClinVar conditions (11):
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
174 54 472 162 100 2 929

Gene and significance breakdown #

Total genes and gene combinations: 17
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MTM1 144 38 48 43 22 0 287
BIN1 7 5 183 60 19 1 252
CCDC78 1 1 137 41 14 0 194
DNM2 10 3 55 9 42 0 116
MYF6 1 0 22 8 2 0 32
SPEG 3 1 10 0 0 0 14
ASIC4, SPEG 2 1 8 0 0 0 11
MTMR14 0 1 3 1 0 0 5
TTN 2 2 0 0 0 0 4
BIN1, LOC112806045 0 0 3 0 0 0 3
MAP3K20 3 0 0 0 0 0 3
RYR1 0 2 0 0 0 1 3
CD99L2, GPR50, HMGB3, MTM1, MTMR1, VMA21 0 0 1 0 0 0 1
CYP1B1 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: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 34 12 316 148 46 0 556
Illumina Clinical Services Laboratory,Illumina 0 0 112 13 51 0 176
Genetic Services Laboratory, University of Chicago 125 18 13 0 0 0 156
OMIM 31 0 1 0 0 0 32
Baylor Genetics 5 2 18 0 0 0 25
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
Myriad Women's Health, Inc. 0 8 0 0 0 0 8
Fulgent Genetics,Fulgent Genetics 0 0 7 0 0 0 7
Natera, Inc. 0 0 1 2 3 0 6
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
Broad Institute Rare Disease Group, Broad Institute 0 2 1 0 1 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2 0 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 1 1 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 2 0 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 1 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 1
Kasturba Medical College, Manipal University 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 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
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 0 1 0 0 0 1

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