ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease dominant intermediate D

Included ClinVar conditions (9):
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
40 26 32 6 12 25 124

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
MPZ 39 24 31 6 12 25 121
MPZ, SDHC 0 1 1 0 0 0 2
​intergenic 1 0 0 0 0 0 1
SH3TC2 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 16 5 12 0 30
OMIM 26 0 0 0 0 0 26
GeneReviews 3 0 0 0 0 22 25
Mendelics 2 5 0 0 0 0 7
MGZ Medical Genetics Center 0 3 3 0 0 0 6
Athena Diagnostics Inc 4 0 0 0 1 0 5
Fulgent Genetics, Fulgent Genetics 2 1 1 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 1 2 0 0 0 4
3billion 1 3 0 0 0 0 4
Baylor Genetics 1 1 1 0 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 2 0 0 0 0 3
Institute of Human Genetics, Cologne University 1 0 1 0 0 0 2
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 1 0 0 0 2
Laboratory of Functional Genomics, Research Centre for Medical Genetics 0 1 0 1 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Uffe Birk Jensen Lab, Aarhus University Hospital 1 0 1 0 0 0 2
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 0 1
Genotek, Genotek Ltd. 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 1
Human Genetics Section, Sidra Medicine 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
CMT Laboratory, Bogazici University 0 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1
Pangenia Genomics, Pangenia Inc. 0 1 0 0 0 0 1
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 0 0 1 0 0 0 1

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