ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease, axonal, type 2EE

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
18 39 10 1 1 1 63

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MPV17 17 36 9 1 1 1 59
LOC129933372, MPV17 0 2 0 0 0 0 2
MPV17, TRIM54, UCN 1 1 0 0 0 0 1
NEFL 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Baylor Genetics 16 25 0 0 0 0 41
Fulgent Genetics, Fulgent Genetics 6 13 1 1 0 0 21
3billion 1 1 1 0 0 0 3
OMIM 3 0 0 0 0 0 3
Clinical Omics and Informatics (COIN) Unit, Neuroscience Institute, University Of Cape Town 0 0 2 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 1 0 0 0 2
MGZ Medical Genetics Center 0 1 1 0 0 0 2
Next Generation Genetic Polyclinic 0 1 1 0 0 0 2
CMT Laboratory, Bogazici University 1 0 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Institute of Human Genetics, University of Ulm 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1

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