ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease type 2D

Included ClinVar conditions (2):
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
6 3 53 16 25 11 103

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GARS1 6 3 53 16 25 11 103

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 27 16 24 0 67
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 18 0 0 0 18
GeneReviews 0 0 0 0 0 10 10
OMIM 5 0 0 0 0 0 5
Baylor Genetics 0 1 2 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Athena Diagnostics Inc 0 0 0 0 2 0 2
Fulgent Genetics, Fulgent Genetics 0 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 0 2
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
3billion 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 1
Department of Clinical Genetics, Nationwide Children's Hospital 1 0 0 0 0 0 1

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