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
17 3 108 50 37 1 197

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 7 3 87 28 20 0 134
not provided 0 0 11 8 14 1 33
not specified 0 0 4 16 9 0 29
Charcot-Marie-Tooth disease, type 4B1 11 0 0 0 7 0 18
Charcot-Marie-Tooth disease 0 0 13 0 0 0 13

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 7 3 54 14 12 0 90
Illumina Clinical Services Laboratory,Illumina 0 0 34 14 8 0 56
GeneDx 0 0 7 23 16 1 47
Inherited Neuropathy Consortium 0 0 13 0 3 0 16
Athena Diagnostics Inc 0 0 4 1 6 0 11
OMIM 5 0 0 0 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 1 1 0 4
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
PreventionGenetics 0 0 0 0 2 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
GeneReviews 1 0 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, Oman 1 0 0 0 0 0 1

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