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 |
143
|
111
|
415
|
110
|
27
|
25
|
637
|
Condition and significance breakdown #
Condition |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Charcot-Marie-Tooth disease, type I
|
99
|
39
|
188
|
85
|
4
|
0 |
415
|
Charcot-Marie-Tooth disease
|
18
|
9
|
163
|
7
|
2
|
0 |
192
|
not provided
|
44
|
39
|
52
|
14
|
15
|
0 |
158
|
Charcot-Marie-Tooth disease type 1B
|
27
|
12
|
20
|
6
|
9
|
22
|
92
|
Inborn genetic diseases
|
12
|
5
|
28
|
11
|
1
|
0 |
57
|
Charcot-Marie-Tooth disease dominant intermediate D
|
3
|
6
|
22
|
2
|
12
|
0 |
44
|
Roussy-Lévy syndrome
|
1
|
3
|
20
|
2
|
13
|
0 |
39
|
Neuropathy, congenital hypomyelinating, 2
|
4
|
0 |
24
|
5
|
2
|
0 |
35
|
not specified
|
0 |
1
|
10
|
9
|
4
|
0 |
23
|
Charcot-Marie-Tooth disease type 4E
|
1
|
0 |
9
|
8
|
4
|
0 |
22
|
Dejerine-Sottas disease
|
2
|
2
|
15
|
0 |
0 |
0 |
17
|
Charcot-Marie-Tooth disease type 2I
|
5
|
3
|
3
|
0 |
0 |
0 |
10
|
Charcot-Marie-Tooth disease type 2I; Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease type 1B; Charcot-Marie-Tooth disease dominant intermediate D; Roussy-Lévy syndrome; Dejerine-Sottas disease; Charcot-Marie-Tooth disease type 4E
|
3
|
2
|
1
|
0 |
0 |
0 |
6
|
Charcot-Marie-Tooth disease type 2J
|
5
|
1
|
0 |
0 |
0 |
0 |
6
|
MPZ-related condition
|
2
|
2
|
0 |
0 |
0 |
0 |
4
|
Peripheral neuropathy
|
0 |
4
|
0 |
0 |
0 |
0 |
4
|
Charcot-Marie-Tooth disease type 2I; Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease type 1B; Charcot-Marie-Tooth disease dominant intermediate D
|
0 |
0 |
1
|
0 |
0 |
2
|
3
|
Charcot-Marie-Tooth, Intermediate
|
0 |
0 |
2
|
0 |
1
|
0 |
3
|
MPZ-Related Disorders
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Charcot-Marie-Tooth disease, type 1b, with focally folded myelin sheaths
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Dejerine-Sottas syndrome, autosomal dominant
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Tip-toe gait
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Autosomal recessive Dejerine-Sottas syndrome
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Charcot-Marie-Tooth disease type 2I; Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease type 1B
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease type 1B; Dejerine-Sottas disease; Congenital hypomyelinating neuropathy
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Decreased nerve conduction velocity; Sensory neuropathy; Pes cavus; Distal muscle weakness; Distal lower limb amyotrophy
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Dejerine-sottas syndrome, sporadic
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Distal hereditary motor neuropathy type 2
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Hereditary motor neuron disease
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Intellectual disability
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Motor neuron disease
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Roussy-Lévy syndrome; Dejerine-Sottas disease; Neuropathy, congenital hypomyelinating, 2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Sensorimotor neuropathy
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Tremor; EMG: neuropathic changes; Limb muscle weakness
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
99
|
39
|
186
|
85
|
3
|
0 |
412
|
Inherited Neuropathy Consortium
|
11
|
2
|
157
|
0 |
1
|
0 |
171
|
GeneDx
|
21
|
19
|
19
|
13
|
13
|
0 |
85
|
Athena Diagnostics Inc
|
25
|
13
|
15
|
2
|
5
|
0 |
60
|
Ambry Genetics
|
12
|
5
|
28
|
11
|
1
|
0 |
57
|
Molecular Genetics Laboratory, London Health Sciences Centre
|
7
|
9
|
20
|
7
|
1
|
0 |
44
|
CeGaT Center for Human Genetics Tuebingen
|
13
|
4
|
12
|
7
|
2
|
0 |
38
|
OMIM
|
36
|
0 |
0 |
0 |
0 |
0 |
36
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
26
|
11
|
13
|
0 |
34
|
GeneReviews
|
4
|
0 |
0 |
0 |
0 |
22
|
26
|
Mayo Clinic Laboratories, Mayo Clinic
|
5
|
1
|
6
|
0 |
0 |
0 |
12
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
2
|
2
|
4
|
1
|
1
|
0 |
10
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
4
|
5
|
0 |
0 |
0 |
0 |
9
|
Mendelics
|
2
|
5
|
0 |
0 |
0 |
0 |
7
|
Eurofins Ntd Llc (ga)
|
1
|
2
|
3
|
0 |
0 |
0 |
6
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
4
|
2
|
0 |
0 |
0 |
6
|
3billion
|
2
|
4
|
0 |
0 |
0 |
0 |
6
|
Baylor Genetics
|
2
|
1
|
2
|
0 |
0 |
0 |
5
|
Preventiongenetics, part of Exact Sciences
|
2
|
2
|
0 |
0 |
1
|
0 |
5
|
MGZ Medical Genetics Center
|
0 |
3
|
2
|
0 |
0 |
0 |
5
|
Genesis Genome Database
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
Fulgent Genetics, Fulgent Genetics
|
2
|
1
|
1
|
0 |
0 |
0 |
4
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
1
|
2
|
0 |
0 |
0 |
4
|
Revvity Omics, Revvity Omics
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Institute of Human Genetics, Cologne University
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Institute of Human Genetics, University of Wuerzburg
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Clinical Genetics, Academic Medical Center
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
UCLA Clinical Genomics Center, UCLA
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Kariminejad - Najmabadi Pathology & Genetics Center
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Uffe Birk Jensen Lab, Aarhus University Hospital
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, University Hospital of Duesseldorf
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Laboratory of Functional Genomics, Research Centre for Medical Genetics
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Genotek, Genotek Ltd.
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Raymond Lab, University of Cambridge
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
CMT Laboratory, Bogazici University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genomics England Pilot Project, Genomics England
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Chongqing Key Laboratory of Neurology, First Affiliated Hospital of Chongqing Medical University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Pangenia Genomics, Pangenia Inc.
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
The information on this website is not intended for direct
diagnostic use or medical decision-making without review by a
genetics professional. Individuals should not change their
health behavior solely on the basis of information contained on
this website. Neither the University of Utah nor the National
Institutes of Health independently verfies the submitted
information. If you have questions about the information
contained on this website, please see a health care
professional.