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 |
171
|
149
|
229
|
737
|
92
|
3
|
1285
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
146
|
28
|
35
|
714
|
54
|
0 |
977
|
Illumina Laboratory Services, Illumina
|
1
|
2
|
102
|
16
|
32
|
0 |
153
|
GeneDx
|
23
|
4
|
2
|
1
|
62
|
0 |
92
|
Ambry Genetics
|
0 |
0 |
72
|
4
|
0 |
0 |
76
|
Counsyl
|
5
|
52
|
16
|
2
|
0 |
0 |
75
|
Myriad Genetics, Inc.
|
4
|
52
|
0 |
0 |
0 |
0 |
56
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
21
|
7
|
14
|
1
|
5
|
0 |
48
|
PreventionGenetics, part of Exact Sciences
|
4
|
1
|
1
|
17
|
19
|
0 |
42
|
Genome-Nilou Lab
|
0 |
1
|
9
|
2
|
24
|
0 |
36
|
OMIM
|
17
|
0 |
0 |
0 |
0 |
0 |
17
|
CeGaT Center for Human Genetics Tuebingen
|
2
|
0 |
5
|
7
|
1
|
0 |
15
|
Fulgent Genetics, Fulgent Genetics
|
9
|
1
|
4
|
0 |
0 |
0 |
14
|
Revvity Omics, Revvity
|
7
|
2
|
4
|
0 |
0 |
0 |
13
|
Baylor Genetics
|
4
|
3
|
2
|
0 |
0 |
0 |
9
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
2
|
3
|
2
|
0 |
0 |
0 |
7
|
Eurofins Ntd Llc (ga)
|
1
|
0 |
3
|
0 |
1
|
0 |
5
|
Biomedical Innovation Departament, CIEMAT
|
5
|
0 |
0 |
0 |
0 |
0 |
5
|
GeneReviews
|
1
|
0 |
0 |
0 |
0 |
3
|
4
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
2
|
1
|
1
|
0 |
4
|
Reference Center For Rare Oral And Dental Diseases, Crmr O-rares, Hôpitaux Universitaires De Strasbourg
|
0 |
2
|
2
|
0 |
0 |
0 |
4
|
Gharavi Laboratory, Columbia University
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
3billion
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Centogene AG - the Rare Disease Company
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Ulm
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Leeds Amelogenesis Imperfecta Research Group, University of Leeds
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Kariminejad - Najmabadi Pathology & Genetics Center
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Pars Genome Lab
|
1
|
0 |
0 |
0 |
1
|
0 |
2
|
Limin Genodermatosis Research Center, The First Affiliated Hospital of Soochow University
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Mendelics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Lyon Laboratory, Cold Spring Harbor Laboratory
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
1
|
0 |
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 |
1
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Dental Genetics Laboratory, Seoul National University School of Dentistry
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
NxGen MDx
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Lifecell International Pvt. Ltd
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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