ClinVar Miner

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

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
5 7 433 226 86 721

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
DYNC1H1 5 7 432 226 86 720
DYNC1H1, PPP2R5C 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 4 2 346 196 71 619
Illumina Clinical Services Laboratory,Illumina 0 0 92 44 43 179
Mendelics 0 3 3 1 0 7
Istituto Neurologico Mediterraneo,Istituto di Ricovero e Cura a Carattere Scientifico 0 0 2 0 0 2
OMIM 1 0 0 0 0 1
Institute of Human Genetics,University of Goettingen 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 1

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