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 |
other |
not provided |
total |
174
|
126
|
2660
|
2800
|
247
|
1
|
32
|
5481
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
other |
not provided |
total |
Invitae
|
108
|
43
|
2005
|
2251
|
115
|
0 |
0 |
4522
|
Ambry Genetics
|
51
|
15
|
1209
|
1261
|
37
|
0 |
0 |
2573
|
Genome-Nilou Lab
|
0 |
4
|
458
|
61
|
81
|
0 |
0 |
604
|
GeneDx
|
16
|
19
|
206
|
184
|
74
|
0 |
0 |
499
|
Sema4, Sema4
|
0 |
1
|
90
|
135
|
74
|
0 |
0 |
300
|
PreventionGenetics, part of Exact Sciences
|
1
|
3
|
39
|
118
|
10
|
0 |
0 |
171
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
1
|
0 |
47
|
34
|
70
|
0 |
0 |
152
|
Baylor Genetics
|
3
|
15
|
133
|
0 |
0 |
0 |
0 |
150
|
CeGaT Center for Human Genetics Tuebingen
|
3
|
3
|
17
|
70
|
13
|
0 |
0 |
106
|
Illumina Laboratory Services, Illumina
|
0 |
3
|
16
|
4
|
74
|
0 |
0 |
97
|
Genetic Services Laboratory, University of Chicago
|
3
|
3
|
31
|
29
|
17
|
0 |
0 |
83
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
29
|
17
|
0 |
0 |
0 |
46
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
6
|
11
|
16
|
0 |
0 |
33
|
ITMI
|
0 |
0 |
0 |
0 |
0 |
0 |
17
|
17
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
0 |
0 |
15
|
2
|
0 |
0 |
0 |
17
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
2
|
1
|
12
|
2
|
0 |
0 |
0 |
17
|
Revvity Omics, Revvity
|
1
|
1
|
13
|
0 |
0 |
0 |
0 |
15
|
OMIM
|
12
|
0 |
0 |
0 |
0 |
0 |
0 |
12
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
0 |
4
|
8
|
0 |
0 |
12
|
Mendelics
|
2
|
0 |
4
|
4
|
1
|
0 |
0 |
11
|
Center for Molecular Medicine, Children’s Hospital of Fudan University
|
1
|
7
|
2
|
0 |
0 |
0 |
0 |
10
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
2
|
6
|
1
|
0 |
0 |
9
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
6
|
3
|
0 |
0 |
9
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
5
|
2
|
0 |
0 |
7
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
4
|
2
|
0 |
0 |
6
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
2
|
1
|
2
|
0 |
0 |
5
|
UniProtKB/Swiss-Prot
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
5
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
5
|
1
|
0 |
0 |
0 |
5
|
MutSpliceDB: a database of splice sites variants effects on splicing, NIH
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
5
|
New York Genome Center
|
0 |
0 |
5
|
0 |
0 |
0 |
0 |
5
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
3
|
0 |
0 |
0 |
0 |
4
|
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes
|
1
|
0 |
2
|
1
|
0 |
0 |
0 |
4
|
Daryl Scott Lab, Baylor College of Medicine
|
1
|
3
|
0 |
0 |
0 |
0 |
0 |
4
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
4
|
0 |
0 |
0 |
0 |
4
|
3billion
|
1
|
2
|
1
|
0 |
0 |
0 |
0 |
4
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
4
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
3
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
0 |
1
|
2
|
0 |
0 |
3
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
1
|
1
|
0 |
0 |
0 |
0 |
3
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg
|
0 |
0 |
0 |
1
|
1
|
0 |
0 |
2
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
2
|
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
|
0 |
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Donald Williams Parsons Laboratory, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
1
|
0 |
2
|
Center of Medical Genetics and Primary Health Care
|
0 |
0 |
1
|
0 |
1
|
0 |
0 |
2
|
Génétique des Maladies du Développement, Hospices Civils de Lyon
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Laboratory of Medical Genetics, University of Torino
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University Hospital Muenster
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Athena Diagnostics Inc
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genome Diagnostics Laboratory, The Hospital for Sick Children
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
MGZ Medical Genetics Center
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Diagnostics Laboratory, Seoul National University Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Bionano Laboratories
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Clinical Genetics and Genomics, Karolinska University Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genome Sciences Centre, British Columbia Cancer Agency
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory of Molecular Genetics, CHU Rennes
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of Pediatrics, Memorial Sloan Kettering Cancer Center
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department of Molecular Diagnostics, Institute of Oncology Ljubljana
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Cancer Genomics Laboratory, Texas Children's Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Children's Hospital of Wisconsin Genetics Clinic, Medical College of Wisconsin
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Autoinflammatory diseases unit, CHU de Montpellier
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center of Excellence for Medical Genomics, Chulalongkorn University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genomics Program, Stanford Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
DECIPHERD-UDD, Universidad del Desarrollo
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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