ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease type 4B1

Included ClinVar conditions (1):
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
14 4 46 11 22 1 94

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 not provided total
MTMR2 14 4 46 11 22 1 94

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 40 10 19 0 69
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 5 1 5 0 11
OMIM 5 0 0 0 0 0 5
Athena Diagnostics Inc 0 0 0 0 5 0 5
Cirak Lab, University Hospital Cologne 4 0 0 0 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 3 0 3
Baylor Genetics 2 0 0 0 0 0 2
Mendelics 1 0 0 0 1 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 1 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Revvity Omics, Revvity 0 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 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
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Human Genetics Unit, University Of Colombo 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico 0 1 0 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1

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