ClinVar Miner

Variants studied for axonal neuropathy

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
15 4 175 30 11 226

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GAN 13 4 175 30 11 224
ATMIN, BCO1, C16orf46, CDYL2, CENPN, CMC2, GAN, GCSH, PKD1L2 1 0 0 0 0 1
DCAF8 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 4 1 70 12 4 91
Illumina Clinical Services Laboratory,Illumina 0 0 57 17 7 81
Inherited Neuropathy Consortium 0 0 50 1 0 51
OMIM 10 0 0 0 0 10
Baylor Genetics 1 0 2 0 0 3
Fulgent Genetics,Fulgent Genetics 0 1 1 0 0 2
Service de genetique medicale, Pr. Levy,Hopital de La Timone Enfants, APHM 0 2 0 0 0 2
Institute of Human Genetics,Cologne University 1 0 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 1

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