ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease type 4B1

Included ClinVar conditions (1):
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
7 0 0 0 7 14

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic benign total
MTMR2 7 7 14

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic benign total
OMIM 5 0 5
Athena Diagnostics Inc 0 5 5
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 3 3
Institute of Human Genetics,Cologne University 1 0 1
GeneReviews 1 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 1 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 1

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