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 |
|
12
|
7
|
2441
|
1416
|
238
|
1
|
165
|
4042
|
Condition and significance breakdown #
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
association |
not provided |
total |
|
Ambry Genetics
|
1
|
0 |
1950
|
1143
|
0 |
0 |
0 |
3094
|
|
Labcorp Genetics (formerly Invitae), Labcorp
|
3
|
1
|
478
|
296
|
89
|
0 |
0 |
867
|
|
GeneDx
|
3
|
0 |
78
|
72
|
160
|
0 |
0 |
313
|
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
75
|
32
|
42
|
0 |
0 |
150
|
|
GeneReviews
|
0 |
0 |
25
|
0 |
0 |
0 |
117
|
142
|
|
CeGaT Center for Human Genetics Tuebingen
|
4
|
1
|
37
|
53
|
11
|
0 |
0 |
106
|
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
4
|
27
|
69
|
0 |
0 |
100
|
|
Fulgent Genetics, Fulgent Genetics
|
4
|
0 |
49
|
22
|
9
|
0 |
0 |
84
|
|
Dr. Peter K. Rogan Lab, Western University
|
0 |
0 |
0 |
0 |
0 |
0 |
48
|
48
|
|
Athena Diagnostics
|
3
|
0 |
10
|
4
|
27
|
0 |
0 |
44
|
|
Mayo Clinic Laboratories, Mayo Clinic
|
2
|
0 |
10
|
7
|
25
|
0 |
0 |
44
|
|
PreventionGenetics, part of Exact Sciences
|
1
|
0 |
9
|
23
|
6
|
0 |
0 |
39
|
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
1
|
0 |
0 |
6
|
16
|
0 |
0 |
23
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
3
|
0 |
16
|
3
|
1
|
0 |
0 |
23
|
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
1
|
0 |
0 |
1
|
15
|
0 |
0 |
17
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
2
|
0 |
12
|
3
|
0 |
0 |
0 |
17
|
|
Mendelics
|
1
|
0 |
9
|
2
|
1
|
0 |
0 |
13
|
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
9
|
0 |
0 |
9
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
8
|
0 |
0 |
0 |
0 |
8
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
1
|
7
|
0 |
0 |
0 |
0 |
8
|
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
0 |
0 |
8
|
0 |
0 |
8
|
|
OMIM
|
8
|
0 |
0 |
0 |
0 |
0 |
0 |
8
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
6
|
0 |
0 |
0 |
0 |
6
|
|
Revvity Omics, Revvity
|
1
|
0 |
4
|
0 |
0 |
0 |
0 |
5
|
|
Department of Neurology, Qilu Hospital of Shandong University
|
0 |
0 |
4
|
0 |
0 |
0 |
0 |
4
|
|
Molecular Genetics, Royal Melbourne Hospital
|
1
|
0 |
2
|
0 |
1
|
0 |
0 |
4
|
|
Baylor Genetics
|
1
|
0 |
2
|
0 |
0 |
0 |
0 |
3
|
|
Clinical Genetics Laboratory, Skane University Hospital Lund
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
3
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
2
|
0 |
0 |
0 |
0 |
3
|
|
AiLife Diagnostics, AiLife Diagnostics
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Centro Dermatológico Federico Lleras Acosta, Hospital Universitario Centro Dermatológico Federico Lleras Acosta
|
0 |
0 |
1
|
0 |
0 |
1
|
0 |
2
|
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
2
|
|
Codex Genetics Limited
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
1
|
1
|
0 |
0 |
2
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
|
Neurogenetic Laboratory, Oslo University Hospital
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
The Egyptian Network for Neurodegenerative Diseases (ENND), The American University in Cairo
|
0 |
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
3billion
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
CENTOGENE GmbH and LLC - Guiding Precision Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Centre for Medical Genetics, Mumbai
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Courtagen Diagnostics Laboratory, Courtagen Life Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
|
Dasa
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Dubai Health Genomic Medicine Center, Dubai Health
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Indrani Datta Laboratory, National Institute of Mental Health and Neurosciences
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Institute of Human Genetics Munich, TUM University Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
|
Institute of Human Genetics, University Hospital of Duesseldorf
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
|
Istanbul Faculty of Medicine, Istanbul University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
|
MVZ Martinsried, Medicover Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Variantyx, Inc.
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
|
Zabetian_UW Neurogenetics Lab, University of Washington/VAPSHCS
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
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