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 |
125
|
43
|
314
|
232
|
38
|
10
|
689
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
76
|
16
|
235
|
218
|
32
|
0 |
577
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
61
|
13
|
11
|
0 |
86
|
Paris Brain Institute, Inserm - ICM
|
42
|
0 |
0 |
0 |
0 |
0 |
42
|
Fulgent Genetics, Fulgent Genetics
|
10
|
3
|
6
|
2
|
0 |
0 |
21
|
Revvity Omics, Revvity
|
4
|
4
|
10
|
0 |
0 |
0 |
18
|
OMIM
|
13
|
0 |
0 |
0 |
0 |
0 |
13
|
MGZ Medical Genetics Center
|
3
|
5
|
5
|
0 |
0 |
0 |
13
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
10
|
3
|
0 |
0 |
0 |
0 |
13
|
3billion
|
7
|
2
|
2
|
0 |
0 |
0 |
11
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
9
|
0 |
9
|
Genomics England Pilot Project, Genomics England
|
6
|
3
|
0 |
0 |
0 |
0 |
9
|
Genetic Services Laboratory, University of Chicago
|
4
|
4
|
0 |
0 |
0 |
0 |
8
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
2
|
0 |
0 |
0 |
6
|
0 |
8
|
Neurogenetics of motion laboratory, Montreal Neurological Institute
|
8
|
0 |
0 |
0 |
0 |
0 |
8
|
Baylor Genetics
|
4
|
0 |
3
|
0 |
0 |
0 |
7
|
Institute of Human Genetics, University of Leipzig Medical Center
|
3
|
1
|
3
|
0 |
0 |
0 |
7
|
Mendelics
|
4
|
1
|
0 |
0 |
1
|
0 |
6
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
6
|
0 |
0 |
0 |
0 |
0 |
6
|
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris
|
5
|
1
|
0 |
0 |
0 |
0 |
6
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
5
|
5
|
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL)
|
3
|
2
|
0 |
0 |
0 |
0 |
5
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
1
|
3
|
0 |
0 |
0 |
4
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
3
|
1
|
0 |
0 |
0 |
0 |
4
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
2
|
0 |
0 |
0 |
2
|
0 |
4
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
1
|
1
|
2
|
0 |
0 |
0 |
4
|
Athena Diagnostics Inc
|
0 |
0 |
0 |
0 |
3
|
0 |
3
|
Centogene AG - the Rare Disease Company
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Institute of Human Genetics, University Hospital of Duesseldorf
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Genetics and Molecular Pathology, SA Pathology
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
1
|
0 |
0 |
0 |
2
|
0 |
3
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
UCLA Clinical Genomics Center, UCLA
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Undiagnosed Diseases Network, NIH
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
DASA
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Molecular Genetics, Royal Melbourne Hospital
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Mayo Clinic Laboratories, Mayo Clinic
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SIB Swiss Institute of Bioinformatics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genetic Diseases Diagnostic Center, Koc University Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Clinical Genomics Program, Stanford Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
New York Genome Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Lifecell International Pvt. Ltd
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
CMT Laboratory, Bogazici University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department of Human Genetics, Hannover Medical School
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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