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 |
likely risk allele |
risk factor |
other |
not provided |
total |
1006
|
602
|
1763
|
1202
|
143
|
21
|
1
|
2
|
1
|
401
|
4053
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
drug response |
likely risk allele |
risk factor |
other |
not provided |
total |
Invitae
|
487
|
60
|
628
|
840
|
81
|
0 |
0 |
0 |
0 |
0 |
2096
|
Ambry Genetics
|
260
|
66
|
838
|
551
|
27
|
0 |
0 |
0 |
0 |
0 |
1742
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
265
|
110
|
472
|
87
|
18
|
0 |
0 |
0 |
0 |
0 |
952
|
Natera, Inc.
|
281
|
23
|
364
|
58
|
21
|
0 |
0 |
0 |
0 |
0 |
746
|
CFTR-France
|
370
|
0 |
0 |
0 |
43
|
0 |
0 |
0 |
0 |
0 |
413
|
Counsyl
|
58
|
111
|
182
|
20
|
0 |
0 |
0 |
0 |
0 |
0 |
371
|
ClinVar Staff, National Center for Biotechnology Information (NCBI)
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
371
|
371
|
Genome-Nilou Lab
|
14
|
32
|
268
|
37
|
5
|
0 |
0 |
0 |
0 |
0 |
344
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
90
|
26
|
144
|
50
|
32
|
0 |
0 |
0 |
0 |
0 |
342
|
CFTR2
|
322
|
0 |
9
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
331
|
Baylor Genetics
|
211
|
112
|
13
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
328
|
Institute of Human Genetics, University of Leipzig Medical Center
|
142
|
90
|
69
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
302
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
77
|
22
|
154
|
28
|
14
|
0 |
0 |
0 |
0 |
0 |
295
|
Eurofins Ntd Llc (ga)
|
61
|
9
|
185
|
10
|
25
|
0 |
0 |
0 |
1
|
0 |
291
|
Mendelics
|
181
|
22
|
50
|
9
|
15
|
0 |
0 |
0 |
0 |
0 |
277
|
Johns Hopkins Genomics, Johns Hopkins University
|
100
|
31
|
85
|
48
|
13
|
0 |
0 |
0 |
0 |
0 |
277
|
PreventionGenetics, part of Exact Sciences
|
32
|
13
|
62
|
94
|
18
|
0 |
0 |
0 |
0 |
0 |
219
|
Mayo Clinic Laboratories, Mayo Clinic
|
59
|
16
|
101
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
176
|
Illumina Laboratory Services, Illumina
|
11
|
4
|
104
|
18
|
7
|
0 |
0 |
0 |
0 |
0 |
144
|
GeneDx
|
22
|
8
|
55
|
24
|
31
|
0 |
0 |
0 |
0 |
0 |
140
|
Fulgent Genetics, Fulgent Genetics
|
52
|
6
|
71
|
3
|
3
|
0 |
0 |
0 |
0 |
0 |
135
|
Myriad Genetics, Inc.
|
59
|
66
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
125
|
OMIM
|
101
|
0 |
0 |
0 |
4
|
0 |
0 |
2
|
0 |
0 |
105
|
CeGaT Center for Human Genetics Tuebingen
|
39
|
3
|
29
|
24
|
5
|
0 |
0 |
0 |
0 |
0 |
100
|
Revvity Omics, Revvity
|
32
|
11
|
27
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
70
|
Genome Diagnostics Laboratory, The Hospital for Sick Children
|
34
|
11
|
21
|
1
|
7
|
0 |
0 |
0 |
0 |
0 |
64
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
40
|
0 |
5
|
10
|
3
|
0 |
0 |
0 |
0 |
0 |
58
|
Sema4, Sema4
|
5
|
4
|
17
|
19
|
10
|
0 |
0 |
0 |
0 |
0 |
55
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
31
|
0 |
7
|
8
|
5
|
0 |
0 |
0 |
0 |
0 |
51
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
7
|
4
|
10
|
7
|
16
|
0 |
0 |
0 |
0 |
2
|
46
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
18
|
7
|
4
|
3
|
2
|
0 |
0 |
0 |
0 |
0 |
34
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
11
|
8
|
7
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
26
|
GeneReviews
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
24
|
25
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
12
|
4
|
2
|
3
|
3
|
0 |
0 |
0 |
0 |
0 |
24
|
MGZ Medical Genetics Center
|
9
|
4
|
10
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
23
|
PharmGKB
|
0 |
0 |
0 |
0 |
0 |
21
|
0 |
0 |
0 |
0 |
21
|
Clinical Genetics and Genomics, Karolinska University Hospital
|
17
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
19
|
American College of Medical Genetics and Genomics (ACMG)
|
17
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
17
|
AiLife Diagnostics, AiLife Diagnostics
|
10
|
4
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
15
|
Institute of Reproductive Genetics, University of Münster
|
9
|
2
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
14
|
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals
|
0 |
2
|
7
|
3
|
1
|
0 |
0 |
0 |
0 |
0 |
13
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
11
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
13
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
|
4
|
2
|
6
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
12
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
3
|
0 |
0 |
5
|
2
|
0 |
0 |
0 |
0 |
0 |
10
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
6
|
0 |
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
10
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
9
|
9
|
3billion
|
6
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
9
|
Arcensus
|
4
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
8
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
4
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
7
|
Genetic Services Laboratory, University of Chicago
|
1
|
0 |
1
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
7
|
Clinical Genetics Laboratory, Christian Medical College, Vellore
|
1
|
6
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
7
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
2
|
1
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
7
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
3
|
1
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
7
|
Unidad de Estudios Geneticos y Forenses, Instituto Venezolano de Investigaciones Cientificas
|
6
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
6
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
5
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
6
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
3
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
6
|
Genetics and Molecular Pathology, SA Pathology
|
2
|
0 |
3
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
6
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
3
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
6
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
2
|
0 |
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
6
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
5
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
6
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
4
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Undiagnosed Diseases Network, NIH
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
GeniaGeo, Laboratorio Genia
|
4
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
MAGI's Lab - Research, MAGI Group
|
1
|
0 |
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Suma Genomics
|
3
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Centogene AG - the Rare Disease Company
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
3
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Pars Genome Lab
|
1
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Lifecell International Pvt. Ltd
|
3
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
DASA
|
3
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Genomics And Bioinformatics Analysis Resource, Columbia University
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Courtagen Diagnostics Laboratory, Courtagen Life Sciences
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
0 |
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
1
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Institute of Human Genetics, University Hospital Muenster
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Payam Genetics Center, General Welfare Department of North Khorasan Province
|
0 |
0 |
0 |
0 |
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, Cologne University
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
SNPedia
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Blueprint Genetics
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Clinical Genetics, Erasmus University Medical Center
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
SIB Swiss Institute of Bioinformatics
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Core Molecular Diagnostic Lab, McGill University Health Centre
|
0 |
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
NxGen MDx
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Programa de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Molecular Genetics, Royal Melbourne Hospital
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Human Genetics Bochum, Ruhr University Bochum
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Bionano Laboratories
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
GenePathDx, GenePath diagnostics
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University Hospital of Duesseldorf
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Centro de Desenvolvimento Científico e Tecnológico, Secretaria da Saúde do Estado do Rio Grande do Sul
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Kariminejad - Najmabadi Pathology & Genetics Center
|
1
|
0 |
0 |
0 |
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 |
0 |
0 |
0 |
1
|
Genomics For Life
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ACT Genomics,
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics Lab, CHRU Brest
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Research Unit of Respiratory Disease, The Second Xiangya Hospital of Central South University
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genetic Laboratory, Salmaniya Medical Complex
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department of Human Genetics, Hannover Medical School
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Eurofins-Biomnis
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
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genetics professional. Individuals should not change their
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