ClinVar Miner

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

Included ClinVar conditions (13):
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
46 40 41 6 12 26 150

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 45 38 40 6 12 26 147
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: 50
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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
3billion 1 4 1 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 1 2 3 0 0 0 6
MGZ Medical Genetics Center 0 3 3 0 0 0 6
Kariminejad - Najmabadi Pathology & Genetics Center 1 3 1 0 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 3 0 0 0 0 5
Athena Diagnostics 4 0 0 0 0 0 4
Baylor Genetics 1 1 2 0 0 0 4
Fulgent Genetics, Fulgent Genetics 2 1 1 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 0 4 0 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Juno Genomics, Hangzhou Juno Genomics, Inc 2 1 0 0 0 0 3
Laboratory of Functional Genomics, Research Centre for Medical Genetics 0 2 0 1 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 2 0 0 0 0 3
Variantyx, Inc. 1 2 0 0 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 2 0 0 0 2
Institute of Human Genetics, Cologne University 1 0 1 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 1 0 0 0 2
MVZ Martinsried, Medicover Genetics 1 0 1 0 0 0 2
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 0 2
Uffe Birk Jensen Lab, Aarhus University Hospital 1 0 1 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 0 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 1 0 0 0 1
CMT Laboratory, Bogazici University 0 0 1 0 0 0 1
Clinical Omics and Informatics (COIN) Unit, Neuroscience Institute, University Of Cape Town 0 0 1 0 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 1 0 0 0 0 1
Department of Molecular Genetics, Istishari Arab Hospital 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Genotek, Genotek Ltd. 0 1 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 1
Human Genetics Section, Sidra Medicine 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, University Hospital of Duesseldorf 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 1 0 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Next Generation Genetic Polyclinic 0 0 1 0 0 0 1
Pangenia Genomics, Pangenia Inc. 0 1 0 0 0 0 1

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