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 |
drug response |
risk factor |
other |
not provided |
total |
141
|
95
|
209
|
448
|
57
|
1
|
2
|
3
|
5
|
839
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
drug response |
risk factor |
other |
not provided |
total |
Invitae
|
82
|
23
|
133
|
401
|
35
|
0 |
0 |
0 |
0 |
674
|
Baylor Genetics
|
28
|
47
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
76
|
Natera, Inc.
|
10
|
6
|
22
|
22
|
9
|
0 |
0 |
0 |
0 |
69
|
GeneDx
|
1
|
8
|
8
|
10
|
28
|
0 |
0 |
0 |
0 |
55
|
University Children's Hospital, University of Zurich
|
48
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
48
|
Ambry Genetics
|
0 |
0 |
15
|
32
|
0 |
0 |
0 |
0 |
0 |
47
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
22
|
1
|
5
|
0 |
0 |
3
|
0 |
31
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
2
|
24
|
4
|
0 |
0 |
0 |
0 |
30
|
CeGaT Center for Human Genetics Tuebingen
|
2
|
1
|
9
|
9
|
1
|
0 |
0 |
0 |
0 |
22
|
Revvity Omics, Revvity
|
3
|
5
|
10
|
0 |
0 |
0 |
0 |
0 |
0 |
18
|
Fulgent Genetics, Fulgent Genetics
|
2
|
5
|
6
|
4
|
0 |
0 |
0 |
0 |
0 |
17
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
2
|
4
|
7
|
0 |
0 |
0 |
0 |
13
|
OMIM
|
10
|
0 |
0 |
0 |
2
|
0 |
1
|
0 |
0 |
12
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
1
|
1
|
8
|
0 |
0 |
0 |
0 |
10
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
3
|
2
|
3
|
1
|
1
|
0 |
0 |
0 |
0 |
10
|
Illumina Laboratory Services, Illumina
|
1
|
1
|
8
|
0 |
0 |
0 |
0 |
0 |
0 |
10
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
1
|
1
|
8
|
0 |
0 |
0 |
0 |
10
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
4
|
1
|
4
|
0 |
0 |
0 |
0 |
9
|
Genome-Nilou Lab
|
0 |
1
|
0 |
1
|
7
|
0 |
0 |
0 |
0 |
9
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
3
|
3
|
0 |
0 |
0 |
0 |
6
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
5
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
6
|
3billion
|
1
|
3
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
|
0 |
0 |
0 |
4
|
0 |
0 |
0 |
0 |
0 |
4
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
2
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
2
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Mendelics
|
1
|
0 |
0 |
1
|
1
|
0 |
0 |
0 |
0 |
3
|
Inserm U 954, Faculté de Médecine de Nancy
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Institute of Human Genetics, University Hospital Muenster
|
0 |
0 |
2
|
0 |
1
|
0 |
0 |
0 |
0 |
3
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
MGZ Medical Genetics Center
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Department of Pharmacy and Biotechnology, University of Bologna
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
New York Genome Center
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin Children’s Hospital
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
2
|
Faculty of Pharmacy, University of Ljubljana
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Elsea Laboratory, Baylor College of Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
FirmaLab, FirmaLab
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Centre for Inherited Metabolic Diseases, Karolinska University Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Science for Life laboratory, Karolinska Institutet
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
PharmGKB
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Service de Génétique Moléculaire, Hôpital Robert Debré
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Myllykangas group, University of Helsinki
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Database of Curated Mutations (DoCM)
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Neurology Department, Peking University First Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Kariminejad - Najmabadi Pathology & Genetics Center
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department of Traditional Chinese Medicine, Fujian Provincial Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SingHealth Duke-NUS Institute of Precision Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Laboratorio di Genetica e Neuroscienze, Istituto Giannina Gaslini
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MutSpliceDB: a database of splice sites variants effects on splicing, NIH
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Myriad Genetics, Inc.
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Pars Genome Lab
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Medical Genetics Lab, Xi'an People's Hospital(Xi'an Fourth Hospital)
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Nutriplexity
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
iDNA Genomics
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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