ClinVar Miner

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

Included ClinVar conditions (1):
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 6 125 19 26 3 180

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 5 113 16 22 3 160
LOC126860531, NDRG1 0 1 5 3 3 0 11
LOC130001213, NDRG1 0 0 7 0 1 0 8
LOC130001212, NDRG1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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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 3 5 5 0 13
Genome-Nilou Lab 0 0 0 1 11 0 12
Revvity Omics, Revvity 2 3 0 0 0 0 5
OMIM 3 0 0 0 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 3 0 0 0 3
3billion 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
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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 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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