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
24 5 273 65 31 379

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 22 5 272 65 31 376
DCAF8 1 0 1 0 0 2
ATMIN, BCO1, C16orf46, CDYL2, CENPN, CMC2, GAN, GCSH, PKD1L2 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 13 1 152 49 6 221
Illumina Clinical Services Laboratory,Illumina 0 1 82 15 26 124
Inherited Neuropathy Consortium 0 0 50 1 0 51
OMIM 10 0 0 0 0 10
Baylor Genetics 2 0 3 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 1 2
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 1
Medical Genetics Laboratory,Tarbiat Modares University 1 0 0 0 0 1

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