ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease type X

Included ClinVar conditions (6):
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
59 8 17 2 1 85

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GJB1 48 7 1 1 0 56
PDK3 1 0 14 1 1 17
AIFM1, RAB33A 4 1 2 0 0 6
PRPS1 6 0 0 0 0 6

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
OMIM 33 0 0 0 0 33
Invitae 0 0 14 1 1 16
GeneReviews 16 0 0 0 0 16
Athena Diagnostics Inc 5 0 0 0 0 5
Mendelics 3 1 0 1 0 5
Northcott Neuroscience Laboratory, ANZAC Research Institute 4 0 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 2 0 0 0 3
Fulgent Genetics,Fulgent Genetics 2 0 1 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 2
Molecular Genetics and RNA Biology,University of Milan 2 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 2 0 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 2 0 0 0 0 2
Codex Genetics Limited 1 1 0 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 1
Inherited Neuropathy Consortium 0 0 1 0 0 1

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