ClinVar Miner

Variants in gene MTMR2

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
26 8 172 79 47 1 307

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Charcot-Marie-Tooth disease type 4 14 5 110 29 17 0 174
Charcot-Marie-Tooth disease, type 4B1 14 2 41 11 22 0 87
not provided 0 1 18 20 16 1 54
Charcot-Marie-Tooth disease 0 0 24 17 8 0 49
not specified 0 0 4 16 8 0 28

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 14 5 104 41 15 0 179
Illumina Clinical Services Laboratory,Illumina 0 0 47 10 21 0 78
GeneDx 0 0 7 23 16 1 47
Molecular Genetics Laboratory,London Health Sciences Centre 0 0 12 17 8 0 37
Athena Diagnostics Inc 0 0 7 0 9 0 16
Inherited Neuropathy Consortium 0 0 12 0 3 0 15
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 2 2 5 0 9
OMIM 5 0 0 0 0 0 5
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 2 1 1 0 4
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 3 0 0 0 3
Baylor Genetics 2 0 0 0 0 0 2
PreventionGenetics, PreventionGenetics 0 0 0 0 2 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 1 0 0 0 2
Dept. of Medical Genetics, Telemark Hospital Trust 0 0 2 0 0 0 2
Institute of Human Genetics,Cologne University 1 0 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
GeneReviews 1 0 0 0 0 0 1
Clinical Genetics Karolinska University Hospital,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
Hadassah Hebrew University Medical Center 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, Oman 1 0 0 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

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