ClinVar Miner

Variants studied for centronuclear myopathy

Included ClinVar conditions (10):
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
156 33 203 49 33 1 457

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MTM1 131 23 26 4 7 0 186
BIN1 8 5 83 28 11 1 124
CCDC78 1 0 72 12 14 0 99
DNM2 8 3 7 0 0 0 17
MYF6 0 0 8 5 1 0 14
ASIC4, SPEG 2 0 2 0 0 0 4
BIN1, LOC112806045 0 0 3 0 0 0 3
MAP3K20 3 0 0 0 0 0 3
SPEG 3 0 0 0 0 0 3
TTN 0 2 0 0 0 0 2
MTMR14 0 0 1 0 0 0 1
MYF6, OTOGL, PPP1R12A, PTPRQ 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 15 8 140 39 32 0 234
Genetic Services Laboratory, University of Chicago 125 19 13 0 0 0 157
Illumina Clinical Services Laboratory,Illumina 0 0 40 10 0 0 50
OMIM 31 0 1 0 0 0 32
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 12 0 2 0 0 0 14
Fulgent Genetics,Fulgent Genetics 0 0 7 0 0 0 7
SIB Swiss Institute of Bioinformatics 0 4 0 0 0 0 4
Baylor Miraca Genetics Laboratories, 2 0 1 0 0 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2 0 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 2 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 1 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 0 0 0 0 0 1
Johns Hopkins Genomics,Johns Hopkins University 0 0 1 0 0 0 1

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