ClinVar Miner

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

Included ClinVar conditions (2):
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
46 18 270 110 35 472

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
IGHMBP2 46 18 270 110 35 472

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 39 12 265 110 35 461
Baylor Genetics 3 0 4 0 0 7
OMIM 6 0 0 0 0 6
Fulgent Genetics,Fulgent Genetics 1 1 3 0 0 5
Department of Medical Genetics, Oslo University Hospital 0 3 0 0 0 3
Institute of Human Genetics,Cologne University 1 1 0 0 0 2
Undiagnosed Diseases Network,NIH 1 0 1 0 0 2
Biochemistry Laboratory of CDMU,Chengde Medical University 1 1 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 0 0 0 1

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