ClinVar Miner

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

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
14 6 109 10 25 8 164

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
PRX 14 6 104 10 23 8 157
LOC130064456, PRX 0 0 4 0 0 0 4
LOC130064454, PRX 0 0 1 0 1 0 2
PLD3, PRX 0 0 0 0 1 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 97 8 23 0 128
Baylor Genetics 1 1 9 0 0 0 11
Athena Diagnostics Inc 0 0 0 0 7 0 7
OMIM 6 0 0 0 0 0 6
Fulgent Genetics, Fulgent Genetics 0 0 2 2 2 0 6
GeneReviews 0 0 0 0 0 5 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 3 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 2 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Institute of Human Genetics, Cologne University 2 0 0 0 0 0 2
CMT Laboratory, Bogazici University 2 0 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 1 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 0 1
Institute of Human Genetics, University of Ulm 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 0 1 0 0 0 0 1
3billion 0 1 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 1 0 0 0 0 0 1

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