ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease type 4D

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 not provided total
9 10 128 20 26 3 188

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
NDRG1 8 8 114 17 22 3 165
LOC126860531, NDRG1 0 2 7 3 3 0 14
LOC130001213, NDRG1 0 0 7 0 1 0 8
LOC130001212, NDRG1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 67 7 15 0 89
Natera, Inc. 0 0 65 6 0 0 71
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 4 6 5 0 15
Genome-Nilou Lab 0 0 0 1 11 0 12
Fulgent Genetics, Fulgent Genetics 0 5 5 0 0 0 10
Revvity Omics, Revvity 2 3 0 0 0 0 5
OMIM 3 0 0 0 0 0 3
3billion, Medical Genetics 1 1 1 0 0 0 3
Baylor Genetics 1 0 1 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 0 0 2 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Institute of Bioinformatics 1 0 0 0 0 0 1
CMT Laboratory, Bogazici University 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1

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