ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease type 1B

Included ClinVar conditions (6):
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
29 17 22 6 9 25 103

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 28 15 22 6 9 25 101
​intergenic 1 0 0 0 0 0 1
MPZ, SDHC 0 1 0 0 0 0 1
SH3TC2 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 16 5 9 0 30
GeneReviews 3 0 0 0 0 22 25
OMIM 18 0 0 0 0 0 18
Mendelics 2 5 0 0 0 0 7
Athena Diagnostics Inc 4 0 0 0 1 0 5
Fulgent Genetics, Fulgent Genetics 2 1 1 0 0 0 4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 2 0 0 0 0 3
MGZ Medical Genetics Center 0 2 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Laboratory of Functional Genomics, Research Centre for Medical Genetics 0 1 0 1 0 0 2
3billion 1 1 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Uffe Birk Jensen Lab, Aarhus University Hospital 1 0 1 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 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
Neuberg Centre For Genomic Medicine, NCGM 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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