ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease, axonal, type 2T

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 risk factor total
6 2 4 0 0 3 15

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance risk factor total
MME 5 2 4 3 14
DNAJB2 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic likely pathogenic uncertain significance risk factor total
OMIM 5 0 0 3 8
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 2 0 2
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 2 0 0 2
Baylor Genetics 1 0 0 0 1
Institute of Human Genetics, Uniklinik RWTH Aachen 0 0 1 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 1

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