ClinVar Miner

Variants studied for Charcot-marie-tooth disease, axonal, type 2DD

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
6 5 4 0 13 27

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
ATP1A1 6 5 4 13 27

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance benign total
Genome-Nilou Lab 0 0 0 13 13
OMIM 5 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 2 0 2
Baylor Genetics 0 1 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 1
Mendelics 0 1 0 0 1
3billion 0 0 1 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 1
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo 0 0 1 0 1
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 0 1 0 0 1
Inherited Neuropathy Consortium Ii, University Of Miami 1 0 0 0 1

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