ClinVar Miner

Variants in gene MTMR2

Minimum submission review status: Collection method:
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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
32 13 279 214 64 1 566

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Charcot-Marie-Tooth disease type 4 21 6 188 165 23 0 402
not provided 0 1 36 28 36 0 98
Charcot-Marie-Tooth disease type 4B1 14 4 46 11 22 1 94
Inborn genetic diseases 2 2 53 19 0 0 76
Charcot-Marie-Tooth disease 0 0 24 17 8 0 49
not specified 0 0 6 16 10 0 31
MTMR2-related condition 0 0 0 5 3 0 8

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 21 6 182 169 21 0 399
GeneDx 0 0 15 33 37 0 85
Illumina Laboratory Services, Illumina 0 0 47 10 21 0 78
Ambry Genetics 2 2 53 19 0 0 76
Molecular Genetics Laboratory, London Health Sciences Centre 0 0 12 17 8 0 37
Athena Diagnostics Inc 0 0 10 1 9 0 20
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 7 2 6 0 15
Inherited Neuropathy Consortium 0 0 12 0 3 0 15
PreventionGenetics, part of Exact Sciences 0 0 0 5 5 0 10
CeGaT Center for Human Genetics Tuebingen 0 0 5 3 2 0 10
Mayo Clinic Laboratories, Mayo Clinic 0 0 7 0 0 0 7
OMIM 5 0 0 0 0 0 5
Clinical Genetics, Academic Medical Center 0 0 0 1 4 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 3 0 4
Eurofins Ntd Llc (ga) 0 0 2 1 1 0 4
Cirak Lab, University Hospital Cologne 4 0 0 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 2 0 0 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
Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust 0 0 2 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
GeneReviews 0 0 0 0 0 1 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 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
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 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 Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 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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