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 not provided total
116 31 378 528 52 4 1090

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 not provided total
IGHMBP2 112 29 364 504 47 4 1042
IGHMBP2, LOC126861245 4 2 14 24 5 0 48

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 107 21 372 526 51 0 1077
Genome-Nilou Lab 0 0 0 0 9 0 9
Fulgent Genetics, Fulgent Genetics 1 1 4 2 0 0 8
OMIM 6 0 0 0 0 0 6
Baylor Genetics 1 0 4 0 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 2 0 0 0 0 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
Department of Medical Genetics, Oslo University Hospital 0 3 0 0 0 0 3
3billion 2 1 0 0 0 0 3
Institute of Human Genetics, Cologne University 1 1 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 1 0 0 0 2
Undiagnosed Diseases Network, NIH 1 0 1 0 0 0 2
Biochemistry Laboratory of CDMU, Chengde Medical University 1 1 0 0 0 0 2
Suma Genomics 1 1 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 0 0 0 0 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 1
Genetics Laboratory, Department of Biology, Semnan University 1 0 0 0 0 0 1
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo 1 0 0 0 0 0 1

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