ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease, type 2A2A

Coded as:
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 total
22 9 0 0 0 30

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic total
MFN2 22 9 30

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic total
OMIM 15 0 15
Athena Diagnostics Inc 6 2 8
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 4 3 7
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 2 2
Northcott Neuroscience Laboratory, ANZAC Research Institute 2 0 2
Baylor Genetics 1 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 1
Institute of Human Genetics,Cologne University 1 0 1
Mendelics 1 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 1 0 1

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