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 |
association |
not provided |
total |
46
|
48
|
612
|
450
|
124
|
1
|
56
|
1125
|
Condition and significance breakdown #
Condition |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
association |
not provided |
total |
Charcot-Marie-Tooth disease axonal type 2C
|
23
|
15
|
482
|
343
|
59
|
0 |
2
|
893
|
not provided
|
15
|
14
|
149
|
125
|
75
|
0 |
3
|
340
|
Inborn genetic diseases
|
7
|
2
|
87
|
109
|
1
|
0 |
0 |
206
|
Metatropic dysplasia
|
16
|
6
|
33
|
11
|
58
|
0 |
0 |
123
|
Charcot-Marie-Tooth disease
|
3
|
2
|
48
|
47
|
23
|
0 |
0 |
122
|
Neuronopathy, distal hereditary motor, autosomal dominant 8
|
5
|
1
|
35
|
11
|
58
|
0 |
0 |
109
|
Spondylometaphyseal dysplasia, Kozlowski type
|
6
|
1
|
32
|
11
|
59
|
0 |
0 |
109
|
Scapuloperoneal spinal muscular atrophy
|
4
|
1
|
34
|
11
|
58
|
0 |
0 |
107
|
Brachyrachia (short spine dysplasia)
|
3
|
0 |
33
|
10
|
58
|
0 |
0 |
104
|
not specified
|
0 |
0 |
9
|
57
|
37
|
0 |
0 |
96
|
Skeletal dysplasia
|
0 |
1
|
0 |
0 |
0 |
0 |
28
|
28
|
Connective tissue disorder
|
0 |
1
|
10
|
5
|
10
|
0 |
0 |
26
|
TRPV4-related condition
|
2
|
2
|
7
|
11
|
4
|
0 |
0 |
26
|
Skeletal dysplasia; Neuromuscular disease
|
1
|
0 |
0 |
0 |
0 |
0 |
12
|
13
|
Brachyrachia (short spine dysplasia); Familial digital arthropathy-brachydactyly; Metatropic dysplasia; Parastremmatic dwarfism; Spondylometaphyseal dysplasia, Kozlowski type; Spondyloepimetaphyseal dysplasia, Maroteaux type; Neuronopathy, distal hereditary motor, autosomal dominant 8; Scapuloperoneal spinal muscular atrophy; Sodium serum level quantitative trait locus 1; Charcot-Marie-Tooth disease axonal type 2C; Avascular necrosis of femoral head, primary, 2
|
1
|
0 |
8
|
2
|
0 |
0 |
0 |
11
|
Neuromuscular disease
|
0 |
0 |
0 |
0 |
0 |
0 |
6
|
6
|
Spondyloepimetaphyseal dysplasia, Maroteaux type
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Neuronopathy, distal hereditary motor, autosomal dominant
|
0 |
0 |
4
|
0 |
0 |
0 |
0 |
4
|
Tip-toe gait
|
0 |
3
|
1
|
0 |
0 |
0 |
0 |
4
|
Distal spinal muscular atrophy
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Familial digital arthropathy-brachydactyly
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Parastremmatic dwarfism
|
2
|
0 |
1
|
0 |
0 |
0 |
0 |
3
|
Charcot-Marie-Tooth disease type 4
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
See cases
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
TRPV4-Associated Disorders
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
2
|
TRPV4-related bone disorder
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Amyotrophic lateral sclerosis type 5; Charcot-Marie-Tooth disease axonal type 2C; Charcot-Marie-Tooth disease axonal type 2X
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Auditory neuropathy
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Avascular necrosis of femoral head, primary, 2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Brachyolmia
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Charcot-Marie-Tooth disease type 2
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Charcot-Marie-Tooth disease, type I
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Clubfoot; EMG abnormality; Lower limb amyotrophy
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Hereditary motor neuron disease
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Mild short stature
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Myoepithelial tumor
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Neuronopathy, distal hereditary motor, autosomal dominant 8; Charcot-Marie-Tooth disease axonal type 2C
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Neuronopathy, distal hereditary motor, autosomal dominant 8; Scapuloperoneal spinal muscular atrophy; Charcot-Marie-Tooth disease axonal type 2C
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Neuronopathy, distal hereditary motor, autosomal dominant 8; Scapuloperoneal spinal muscular atrophy; Charcot-Marie-Tooth disease axonal type 2C; TRPV4-related bone disorder
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Skeletal dysplasia and progressive central nervous system degeneration, lethal
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Sodium serum level quantitative trait locus 1
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Spondylometaphyseal dysplasia
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
TRPV4-associated skeletal dysplasias
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
TRPV4-related disorders
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
association |
not provided |
total |
Invitae
|
23
|
11
|
451
|
327
|
50
|
0 |
0 |
862
|
GeneDx
|
10
|
6
|
89
|
116
|
68
|
0 |
0 |
289
|
Ambry Genetics
|
7
|
2
|
87
|
109
|
1
|
0 |
0 |
206
|
Molecular Genetics Laboratory, London Health Sciences Centre
|
3
|
2
|
38
|
47
|
23
|
0 |
0 |
113
|
Illumina Laboratory Services, Illumina
|
2
|
0 |
46
|
38
|
59
|
0 |
0 |
106
|
CeGaT Center for Human Genetics Tuebingen
|
8
|
0 |
13
|
37
|
7
|
0 |
0 |
65
|
Athena Diagnostics Inc
|
5
|
0 |
21
|
2
|
35
|
0 |
0 |
63
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
1
|
11
|
25
|
21
|
0 |
0 |
58
|
GeneReviews
|
1
|
0 |
0 |
0 |
0 |
0 |
51
|
52
|
PreventionGenetics, part of Exact Sciences
|
2
|
2
|
7
|
17
|
20
|
0 |
0 |
48
|
OMIM
|
34
|
0 |
0 |
0 |
0 |
1
|
0 |
35
|
Genome Diagnostics Laboratory, The Hospital for Sick Children
|
0 |
1
|
10
|
5
|
10
|
0 |
0 |
26
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
3
|
4
|
17
|
0 |
0 |
24
|
Eurofins Ntd Llc (ga)
|
1
|
0 |
7
|
5
|
11
|
0 |
0 |
24
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
1
|
0 |
4
|
2
|
13
|
0 |
0 |
20
|
Revvity Omics, Revvity
|
1
|
0 |
15
|
0 |
0 |
0 |
0 |
16
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
9
|
6
|
0 |
0 |
15
|
Mayo Clinic Laboratories, Mayo Clinic
|
1
|
0 |
14
|
0 |
0 |
0 |
0 |
15
|
Inherited Neuropathy Consortium
|
0 |
1
|
12
|
0 |
0 |
0 |
0 |
13
|
Fulgent Genetics, Fulgent Genetics
|
1
|
0 |
8
|
2
|
0 |
0 |
0 |
11
|
Genesis Genome Database
|
0 |
0 |
9
|
0 |
0 |
0 |
0 |
9
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
2
|
1
|
5
|
0 |
0 |
0 |
0 |
8
|
Blueprint Genetics
|
2
|
3
|
2
|
0 |
0 |
0 |
0 |
7
|
Molecular Diagnostics Lab, Nemours Children's Health, Delaware
|
2
|
3
|
1
|
0 |
0 |
0 |
0 |
6
|
Mendelics
|
0 |
0 |
1
|
3
|
2
|
0 |
0 |
6
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
1
|
0 |
5
|
0 |
0 |
0 |
6
|
Clinical Genetics and Genomics, Karolinska University Hospital
|
2
|
2
|
0 |
0 |
0 |
0 |
0 |
4
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
1
|
1
|
2
|
0 |
0 |
4
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
3
|
1
|
0 |
0 |
0 |
0 |
0 |
4
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
1
|
3
|
0 |
0 |
0 |
4
|
3billion
|
3
|
0 |
1
|
0 |
0 |
0 |
0 |
4
|
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino
|
0 |
3
|
1
|
0 |
0 |
0 |
0 |
4
|
Baylor Genetics
|
2
|
0 |
1
|
0 |
0 |
0 |
0 |
3
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
2
|
1
|
0 |
0 |
0 |
3
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
1
|
1
|
0 |
0 |
0 |
0 |
3
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
1
|
1
|
1
|
0 |
0 |
3
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
2
|
0 |
1
|
0 |
0 |
0 |
0 |
3
|
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
3
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Institute of Human Genetics, Cologne University
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
2
|
Centogene AG - the Rare Disease Company
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
2
|
Northcott Neuroscience Laboratory, ANZAC Research Institute
|
0 |
0 |
0 |
1
|
1
|
0 |
0 |
2
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
1
|
0 |
0 |
0 |
1
|
0 |
0 |
2
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
MGZ Medical Genetics Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
University of Washington Center for Mendelian Genomics, University of Washington
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Medical Genetics, Meyer Children Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Wuerzburg
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Caryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Faculty of Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genomic Medicine Lab, University of California San Francisco
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
AiLife Diagnostics, AiLife Diagnostics
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genomics England Pilot Project, Genomics England
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
WangQJ Lab, Chinese People's Liberation Army General Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Human Genetics Bochum, Ruhr University Bochum
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Clinical Genetics, Synlab MVZ Humangenetik Freiburg
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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