ClinVar Miner

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

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
12 5 5 0 0 21

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
IGHMBP2 12 5 5 21

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance total
Baylor Genetics 3 0 4 7
OMIM 6 0 0 6
Department of Medical Genetics, Oslo University Hospital 0 3 0 3
Institute of Human Genetics,Cologne University 1 1 0 2
Undiagnosed Diseases Network,NIH 1 0 1 2
Biochemistry Laboratory of CDMU,Chengde Medical University 1 1 0 2
Integrated Genetics/Laboratory Corporation of America 1 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 1

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