ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;

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 total
7 5 2 0 0 12

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
MFN2 7 5 2 12

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 5 0 0 5
Institute of Human Genetics,Cologne University 1 2 0 3
Fulgent Genetics 3 0 0 3
SIB Swiss Institute of Bioinformatics 0 2 1 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 0 1
Department Of Genetics,Lifeline Super Speciality Hospital, Adoor. 0 0 1 1

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