ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease type 2B2

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
3 4 2 0 2 2 12

Gene and significance breakdown #

Total genes and gene combinations: 2
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance benign not provided total
MED25 1 2 2 1 2 7
PNKP 2 2 0 1 0 5

Submitter and significance breakdown #

Total submitters: 10
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance benign not provided total
OMIM 2 0 1 0 0 3
Mendelics 1 2 0 0 0 3
Baylor Genetics 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 1 1
Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico 0 0 1 0 0 1
Genome-Nilou Lab 0 0 0 1 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 1 1
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo 1 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.