ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease axonal type 2K

Included ClinVar conditions (4):
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
14 0 2 0 1 17

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic uncertain significance benign total
GDAP1 14 1 1 16
ELOC, GDAP1, JPH1, LINC01617, LY96, TMEM70, UBE2W 0 1 0 1

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic uncertain significance benign total
OMIM 11 0 0 11
GeneReviews 2 0 0 2
Fulgent Genetics 1 1 0 2
Athena Diagnostics Inc 0 0 1 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 1
Neurology Department,Peking University First Hospital 1 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 1 0 1

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