ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease type 2A1

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
3 0 93 5 6 1 107

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic uncertain significance likely benign benign not provided total
KIF1B 3 86 5 5 0 98
KIF1B, LOC126805614 0 4 0 0 0 4
KIF1B, LOC129388447 0 2 0 0 0 2
DGAT2 0 1 0 0 0 1
KIF1B, LOC129388446 0 0 0 1 0 1
MFN2 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 0 62 3 0 0 65
Revvity Omics, Revvity 0 13 0 0 0 13
Department of Pathology and Laboratory Medicine, Sinai Health System 0 6 2 1 0 9
Genome-Nilou Lab 0 0 0 4 0 4
Kariminejad - Najmabadi Pathology & Genetics Center 0 3 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 2 0 0 0 2
Institute of Human Genetics, University of Wuerzburg 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 2 0 0 0 2
Next Generation Genetic Polyclinic 0 2 0 0 0 2
OMIM 2 0 0 0 0 2
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 1 0 0 0 1
Center for Precision Medicine, Vanderbilt University Medical Center 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 1 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 1
Medical Genetics Laboratory, Niloo Shiraz Laboratory 0 0 0 1 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 1 0 0 0 1

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