ClinVar Miner

Variants studied for autosomal dominant Charcot-Marie-Tooth disease type 2K

Included ClinVar conditions (6):
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
18 7 66 1 4 2 80

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GDAP1 17 7 60 1 2 2 71
GDAP1, LOC130000622 1 0 5 0 1 0 7
ELOC, GDAP1, JPH1, LINC01617, LOC126860420, LOC129390012, LOC130000611, LOC130000612, LOC130000613, LOC130000614, LOC130000615, LOC130000616, LOC130000617, LOC130000618, LOC130000619, LOC130000620, LOC130000621, LOC130000622, LY96, TMEM70, UBE2W 0 0 1 0 0 0 1
JPH1 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 51 0 0 0 51
OMIM 11 0 0 0 0 0 11
Fulgent Genetics, Fulgent Genetics 6 1 3 0 0 0 10
MGZ Medical Genetics Center 2 1 3 0 0 0 6
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 3 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 1 0 0 0 3
Genome-Nilou Lab 0 0 0 0 2 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Baylor Genetics 0 0 1 0 0 0 1
Athena Diagnostics 0 0 0 0 1 0 1
Mendelics 0 0 0 0 1 0 1
GeneReviews 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Neurology Department, Peking University First Hospital 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 0 0 0 1 0 0 1
Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico 1 0 0 0 0 0 1
3billion 0 0 1 0 0 0 1
Suma Genomics 0 0 1 0 0 0 1
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo 0 1 0 0 0 0 1

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