ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease X-linked dominant 1

Included ClinVar conditions (1):
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
43 3 0 0 0 46

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic total
GJB1 43 3 46

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic total
OMIM 22 0 22
GeneReviews 14 0 14
Athena Diagnostics Inc 5 0 5
Northcott Neuroscience Laboratory, ANZAC Research Institute 4 0 4
Fulgent Genetics 2 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 2 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 1 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 1

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