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 |
112
|
51
|
1080
|
1014
|
338
|
17
|
2471
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
82
|
27
|
839
|
829
|
96
|
0 |
1873
|
GeneDx
|
11
|
3
|
56
|
175
|
261
|
0 |
506
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
135
|
16
|
44
|
0 |
195
|
Ambry Genetics
|
1
|
0 |
76
|
4
|
0 |
0 |
81
|
CeGaT Center for Human Genetics Tuebingen
|
1
|
2
|
28
|
36
|
2
|
0 |
69
|
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan
|
0 |
0 |
0 |
0 |
62
|
0 |
62
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
5
|
5
|
34
|
0 |
44
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
19
|
14
|
9
|
0 |
42
|
Bionano Laboratories
|
0 |
0 |
27
|
0 |
0 |
0 |
27
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
3
|
7
|
10
|
5
|
1
|
0 |
26
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
26
|
0 |
26
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
4
|
1
|
19
|
0 |
0 |
0 |
24
|
Preventiongenetics, part of Exact Sciences
|
0 |
1
|
8
|
0 |
14
|
0 |
23
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
1
|
0 |
0 |
8
|
14
|
0 |
23
|
Baylor Genetics
|
2
|
0 |
19
|
0 |
0 |
0 |
21
|
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center
|
0 |
0 |
0 |
0 |
18
|
0 |
18
|
Revvity Omics, Revvity Omics
|
0 |
2
|
14
|
0 |
0 |
0 |
16
|
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
|
0 |
0 |
6
|
9
|
0 |
0 |
15
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
1
|
5
|
6
|
3
|
0 |
15
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
14
|
14
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
2
|
1
|
10
|
0 |
13
|
OMIM
|
10
|
0 |
0 |
0 |
0 |
0 |
10
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
1
|
4
|
4
|
0 |
0 |
0 |
9
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
1
|
2
|
3
|
2
|
0 |
8
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
8
|
0 |
0 |
0 |
8
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
7
|
0 |
0 |
0 |
7
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
5
|
1
|
0 |
0 |
6
|
ISCA Site 6
|
0 |
1
|
2
|
2
|
0 |
0 |
5
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
2
|
3
|
0 |
0 |
5
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
1
|
0 |
4
|
0 |
5
|
New York Genome Center
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
Mendelics
|
0 |
1
|
3
|
0 |
0 |
0 |
4
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
3
|
1
|
0 |
0 |
4
|
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust
|
1
|
0 |
0 |
0 |
3
|
0 |
4
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
0 |
3
|
0 |
0 |
0 |
4
|
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Molecular Oncology - Human Genetics Lab, University of Sao Paulo
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
ISCA site 1
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla", Administración Nacional de Laboratorios e Institutos de Salud
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Johns Hopkins Genomics, Johns Hopkins University
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
1
|
0 |
0 |
0 |
1
|
0 |
2
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
AiLife Diagnostics, AiLife Diagnostics
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Laboratory of Transmission, Control and Immunobiology of Infections, Institut Pasteur de Tunis
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Athena Diagnostics Inc
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Blueprint Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Molecular and Cell Biology, University of Tartu
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Service de Génétique Moléculaire, Hôpital Robert Debré
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department of Biotechnology, Institute of Molecular and Cell Biology, University of Tartu
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
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 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genomics Facility, Ludwig-Maximilians-Universität München
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Medical Genetics Laboratory, CHRU Nancy
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
3billion
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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