ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease X-linked recessive 4

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
4 2 8 0 0 12

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
AIFM1, RAB33A 4 2 8 12

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 4 0 0 4
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 4 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 1
Inherited Neuropathy Consortium 0 0 1 1
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo 0 1 0 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 0 1 1

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