ClinVar Miner

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

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
2 4 2 0 6 1 14

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign not provided total
HK1 2 4 2 6 1 14

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance benign not provided total
Genome-Nilou Lab 0 0 0 6 0 6
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 2
OMIM 1 0 0 0 0 1
Baylor Genetics 0 0 1 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 1
Mendelics 0 1 0 0 0 1
GeneReviews 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Laboratory of Applied Genomics, Kongju National University 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 1

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