ClinVar Miner

Variants studied for X-linked hereditary motor and sensory neuropathy

Coded as:
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
50 8 11 2 6 76

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GJB1 50 8 11 2 6 76

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
OMIM 22 0 0 0 0 22
Illumina Clinical Services Laboratory,Illumina 2 0 8 2 6 18
GeneReviews 14 0 0 0 0 14
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 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 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
Institute of Human Genetics, Uniklinik RWTH Aachen 0 0 1 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 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

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