ClinVar Miner

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

Included ClinVar conditions (3):
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
18 4 35 11 3 71

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GDAP1 18 4 35 11 3 71

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 12 4 35 11 2 64
OMIM 3 0 0 0 0 3
Athena Diagnostics Inc 1 0 0 0 1 2
GeneReviews 2 0 0 0 0 2
Fulgent Genetics 1 0 1 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 1
Service de genetique medicale, Pr. Levy,Hopital de La Timone Enfants, APHM 1 0 0 0 0 1

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