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
16 7 117 10 25 8 175

Gene and significance breakdown #

Total genes and gene combinations: 4
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PRX 15 7 112 10 23 8 167
LOC130064456, PRX 0 0 4 0 0 0 4
LOC130064454, PRX 0 0 1 0 1 0 2
PLD3, PRX 1 0 0 0 1 0 2

Submitter and significance breakdown #

Total submitters: 26
Download table as spreadsheet
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
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 10 0 0 0 11
Athena Diagnostics 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 Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 2 0 0 0 3
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
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 1 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
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
Mendelics 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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.