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 |
likely risk allele |
risk factor |
not provided |
total |
1141
|
600
|
1705
|
1335
|
140
|
1
|
7
|
470
|
4429
|
Gene and significance breakdown #
Total genes and gene combinations: 27
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
likely risk allele |
risk factor |
not provided |
total |
CFTR
|
954
|
505
|
1431
|
1124
|
114
|
1
|
0 |
395
|
3710
|
CFTR, LOC111674472
|
104
|
54
|
128
|
89
|
8
|
0 |
0 |
44
|
337
|
CFTR, LOC111674477
|
18
|
21
|
71
|
51
|
5
|
0 |
0 |
2
|
143
|
CFTR, LOC111674475
|
34
|
14
|
36
|
38
|
2
|
0 |
0 |
20
|
120
|
CFTR, LOC113664106
|
17
|
5
|
9
|
14
|
0 |
0 |
0 |
7
|
43
|
CFTR, LOC111674463
|
4
|
0 |
20
|
13
|
8
|
0 |
0 |
0 |
39
|
CFTR, LOC113633877
|
1
|
0 |
1
|
3
|
1
|
0 |
0 |
1
|
6
|
CFTR, LOC113219471
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
FCGR2A
|
0 |
0 |
2
|
0 |
0 |
0 |
1
|
0 |
3
|
TGFB1
|
0 |
0 |
1
|
1
|
0 |
0 |
1
|
0 |
3
|
CFTR, LOC111674467
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
1
|
2
|
CFTR, LOC113633876
|
1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
2
|
CFTR, LOC113664106, LOC113664107
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
CFTR, LOC126860160
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
2
|
PIK3CG
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
CFTR, LOC111674467, LOC111674468, LOC111674477, LOC113633874, LOC113633875, LOC113633876, LOC113633877, LOC126860160
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CFTR, LOC111674468
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
CFTR, LOC111674468, LOC111674477
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CFTR, LOC111674474
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CFTR, LOC113633874
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CFTR, LOC113633875
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
EPHX1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
HFE
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
LOC130064510, TGFB1
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
MBL2
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
PLG
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
SERPINA1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
likely risk allele |
risk factor |
not provided |
total |
Invitae
|
594
|
76
|
744
|
1008
|
98
|
0 |
0 |
0 |
2520
|
Ambry Genetics
|
308
|
85
|
968
|
641
|
38
|
0 |
0 |
0 |
2040
|
CFTR-France
|
421
|
0 |
0 |
0 |
53
|
0 |
0 |
0 |
474
|
Counsyl
|
71
|
141
|
229
|
23
|
0 |
0 |
0 |
0 |
464
|
ClinVar Staff, National Center for Biotechnology Information (NCBI)
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
440
|
440
|
CFTR2
|
395
|
0 |
11
|
0 |
0 |
0 |
0 |
0 |
406
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
269
|
122
|
6
|
3
|
4
|
0 |
0 |
0 |
404
|
Genome-Nilou Lab
|
13
|
30
|
300
|
38
|
6
|
0 |
0 |
0 |
387
|
Institute of Human Genetics, University of Leipzig Medical Center
|
168
|
103
|
77
|
1
|
3
|
0 |
0 |
0 |
352
|
Johns Hopkins Genomics, Johns Hopkins University
|
127
|
36
|
99
|
55
|
18
|
0 |
0 |
0 |
335
|
Mendelics
|
207
|
25
|
62
|
9
|
12
|
0 |
0 |
0 |
315
|
Natera, Inc.
|
39
|
8
|
131
|
23
|
14
|
0 |
0 |
0 |
215
|
Baylor Genetics
|
149
|
48
|
3
|
1
|
0 |
0 |
0 |
0 |
191
|
Fulgent Genetics, Fulgent Genetics
|
71
|
6
|
82
|
5
|
3
|
0 |
0 |
0 |
167
|
Myriad Genetics, Inc.
|
77
|
72
|
0 |
0 |
0 |
0 |
0 |
0 |
149
|
OMIM
|
128
|
0 |
1
|
0 |
4
|
0 |
2
|
0 |
135
|
Genome Diagnostics Laboratory, The Hospital for Sick Children
|
43
|
4
|
25
|
3
|
8
|
0 |
0 |
0 |
83
|
Illumina Laboratory Services, Illumina
|
16
|
4
|
13
|
3
|
0 |
0 |
0 |
0 |
36
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
13
|
9
|
6
|
0 |
0 |
0 |
0 |
0 |
28
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
27
|
27
|
American College of Medical Genetics and Genomics (ACMG)
|
23
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
23
|
MGZ Medical Genetics Center
|
8
|
2
|
6
|
0 |
0 |
0 |
0 |
0 |
16
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
9
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
12
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
8
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
11
|
3billion
|
6
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
9
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
|
4
|
2
|
2
|
0 |
0 |
0 |
0 |
0 |
8
|
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals
|
0 |
1
|
4
|
2
|
1
|
0 |
0 |
0 |
8
|
Clinical Genetics Laboratory, Christian Medical College, Vellore
|
1
|
7
|
0 |
0 |
0 |
0 |
0 |
0 |
8
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
7
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
8
|
Genetics and Molecular Pathology, SA Pathology
|
2
|
1
|
4
|
1
|
0 |
0 |
0 |
0 |
8
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
7
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
8
|
Arcensus
|
4
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
8
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
5
|
0 |
2
|
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 |
6
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
6
|
6
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
5
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
6
|
Pars Genome Lab
|
1
|
0 |
4
|
0 |
1
|
0 |
0 |
0 |
6
|
DASA
|
5
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
6
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
4
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Centogene AG - the Rare Disease Company
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Undiagnosed Diseases Network, NIH
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
GeniaGeo, Laboratorio Genia
|
4
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Center for Computational Genomics and Data Science, University of Alabama
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
0 |
5
|
Suma Genomics
|
3
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
5
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
3
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
NxGen MDx
|
0 |
3
|
1
|
0 |
0 |
0 |
0 |
0 |
4
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
2
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
4
|
Payam Genetics Center, General Welfare Department of North Khorasan Province
|
0 |
0 |
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Genomics And Bioinformatics Analysis Resource, Columbia University
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Courtagen Diagnostics Laboratory, Courtagen Life Sciences
|
3
|
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 |
3
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
3
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
0 |
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
2
|
0 |
1
|
0 |
0 |
0 |
3
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
1
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
3
|
Institute of Human Genetics, University Hospital Muenster
|
1
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
3
|
Lifecell International Pvt. Ltd
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria
|
1
|
1
|
0 |
0 |
0 |
1
|
0 |
0 |
3
|
Institute of Human Genetics, Cologne University
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
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 |
2
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
2
|
SIB Swiss Institute of Bioinformatics
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Center for Precision Medicine, Vanderbilt University Medical Center
|
2
|
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 |
2
|
Core Molecular Diagnostic Lab, McGill University Health Centre
|
0 |
1
|
0 |
1
|
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 |
2
|
Molecular Genetics, Royal Melbourne Hospital
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Genetic Services Laboratory, University of Chicago
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
1
|
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 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
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 |
1
|
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics Lab, CHRU Brest
|
1
|
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 |
1
|
Genetic Laboratory, Salmaniya Medical Complex
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Human Genetics Bochum, Ruhr University Bochum
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department of Human Genetics, Hannover Medical School
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Eurofins-Biomnis
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
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