ClinVar Miner

Variants studied for X-linked centronuclear myopathy

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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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 total
138 21 17 4 7 183

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MTM1 136 21 17 4 7 181
DNM2 2 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Genetic Services Laboratory, University of Chicago 117 17 5 0 0 139
Invitae 9 4 11 4 6 34
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 12 0 1 0 0 13
OMIM 12 0 0 0 0 12
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 9 0 0 0 0 9
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 1 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 0 0 0 0 1

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