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 |
association |
established risk allele |
risk factor |
other |
not provided |
total |
2204
|
438
|
7883
|
3314
|
391
|
2
|
1
|
1
|
930
|
75
|
13957
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
association |
established risk allele |
risk factor |
other |
not provided |
total |
Invitae
|
1053
|
74
|
5947
|
2184
|
174
|
1
|
0 |
0 |
0 |
0 |
9433
|
Ambry Genetics
|
682
|
67
|
3357
|
1832
|
87
|
0 |
1
|
0 |
0 |
0 |
6026
|
Color Diagnostics, LLC DBA Color Health
|
77
|
16
|
1953
|
980
|
59
|
0 |
1
|
0 |
0 |
0 |
3085
|
GeneDx
|
172
|
43
|
879
|
433
|
143
|
0 |
0 |
1
|
0 |
2
|
1673
|
Myriad Genetics, Inc.
|
1225
|
81
|
159
|
41
|
43
|
0 |
0 |
0 |
0 |
0 |
1549
|
Systems Biology Platform Zhejiang California International NanoSystems Institute
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
930
|
0 |
930
|
Baylor Genetics
|
50
|
38
|
560
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
648
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
71
|
20
|
342
|
108
|
91
|
0 |
0 |
0 |
0 |
0 |
632
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
51
|
38
|
316
|
156
|
65
|
0 |
0 |
0 |
0 |
0 |
626
|
Sema4, Sema4
|
3
|
7
|
252
|
139
|
60
|
0 |
0 |
0 |
0 |
0 |
461
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
151
|
3
|
128
|
53
|
32
|
0 |
1
|
0 |
0 |
0 |
367
|
Counsyl
|
8
|
20
|
208
|
68
|
5
|
0 |
0 |
0 |
0 |
0 |
309
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
|
8
|
1
|
96
|
146
|
35
|
0 |
0 |
0 |
0 |
0 |
286
|
Mendelics
|
14
|
5
|
161
|
42
|
21
|
0 |
0 |
0 |
0 |
0 |
243
|
Mayo Clinic Laboratories, Mayo Clinic
|
70
|
65
|
30
|
29
|
27
|
0 |
0 |
0 |
0 |
0 |
221
|
Preventiongenetics, part of Exact Sciences
|
8
|
4
|
105
|
42
|
40
|
0 |
0 |
1
|
0 |
0 |
200
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
109
|
39
|
46
|
0 |
0 |
0 |
0 |
0 |
194
|
CeGaT Center for Human Genetics Tuebingen
|
11
|
3
|
35
|
88
|
13
|
0 |
0 |
0 |
0 |
0 |
150
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
26
|
3
|
21
|
30
|
44
|
0 |
1
|
0 |
0 |
0 |
125
|
Fulgent Genetics, Fulgent Genetics
|
14
|
2
|
63
|
10
|
3
|
0 |
0 |
0 |
0 |
0 |
92
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
11
|
7
|
52
|
7
|
12
|
0 |
0 |
1
|
0 |
0 |
90
|
University of Washington Department of Laboratory Medicine, University of Washington
|
6
|
0 |
9
|
64
|
0 |
0 |
0 |
1
|
0 |
0 |
80
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
7
|
0 |
8
|
13
|
43
|
0 |
0 |
0 |
0 |
0 |
71
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
3
|
0 |
54
|
7
|
3
|
0 |
0 |
0 |
0 |
0 |
67
|
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.
|
0 |
0 |
28
|
7
|
32
|
0 |
0 |
0 |
0 |
0 |
67
|
Genetic Services Laboratory, University of Chicago
|
2
|
1
|
34
|
14
|
15
|
0 |
0 |
0 |
0 |
0 |
66
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
13
|
0 |
5
|
30
|
15
|
0 |
0 |
0 |
0 |
0 |
63
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
3
|
0 |
53
|
3
|
1
|
0 |
0 |
0 |
0 |
0 |
60
|
ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel
|
7
|
11
|
14
|
7
|
17
|
0 |
0 |
0 |
0 |
0 |
56
|
Eurofins Ntd Llc (ga)
|
15
|
1
|
10
|
2
|
24
|
0 |
0 |
0 |
0 |
0 |
52
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
1
|
25
|
25
|
0 |
0 |
0 |
0 |
0 |
51
|
ITMI
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
50
|
50
|
3DMed Clinical Laboratory Inc
|
2
|
0 |
45
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
47
|
OMIM
|
44
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
46
|
Biesecker Lab/Clinical Genomics Section, National Institutes of Health
|
0 |
0 |
38
|
0 |
6
|
0 |
0 |
0 |
0 |
0 |
44
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
7
|
0 |
3
|
13
|
20
|
0 |
0 |
0 |
0 |
0 |
43
|
True Health Diagnostics
|
0 |
0 |
7
|
31
|
2
|
0 |
0 |
1
|
0 |
0 |
41
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
3
|
0 |
2
|
16
|
12
|
0 |
0 |
0 |
0 |
0 |
33
|
Revvity Omics, Revvity Omics
|
7
|
1
|
24
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
32
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
7
|
0 |
1
|
16
|
8
|
0 |
0 |
0 |
0 |
0 |
32
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
1
|
14
|
15
|
0 |
0 |
0 |
0 |
0 |
30
|
CSER _CC_NCGL, University of Washington
|
0 |
0 |
21
|
7
|
0 |
0 |
0 |
0 |
0 |
0 |
27
|
GeneKor MSA
|
3
|
1
|
22
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
27
|
Clinical Genetics and Genomics, Karolinska University Hospital
|
24
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
24
|
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University
|
0 |
7
|
0 |
0 |
14
|
0 |
0 |
0 |
0 |
0 |
21
|
Pathway Genomics
|
9
|
0 |
7
|
2
|
2
|
0 |
0 |
0 |
0 |
0 |
20
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
11
|
1
|
6
|
0 |
0 |
0 |
0 |
0 |
18
|
MGZ Medical Genetics Center
|
3
|
9
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
17
|
Department of Molecular Diagnostics, Institute of Oncology Ljubljana
|
10
|
7
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
17
|
Center for Human Genetics, Inc, Center for Human Genetics, Inc
|
7
|
3
|
3
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
14
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
6
|
1
|
7
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
14
|
Database of Curated Mutations (DoCM)
|
0 |
13
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
13
|
Institute of Human Genetics, University of Leipzig Medical Center
|
8
|
2
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
13
|
Laboratory for Genotyping Development, RIKEN
|
13
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
13
|
Laboratory of Molecular and Cellular Biology, University of Science and Technology Houari Boumediene
|
13
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
13
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
12
|
12
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
12
|
12
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
3
|
6
|
0 |
0 |
0 |
0 |
0 |
9
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
7
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
8
|
deCODE genetics, Amgen
|
0 |
8
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
8
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
3
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
6
|
Molecular Oncology Laboratory, Hospital Clínico San Carlos
|
2
|
0 |
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
6
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
2
|
1
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
6
|
Yale Center for Mendelian Genomics, Yale University
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
4
|
Genome Sciences Centre, British Columbia Cancer Agency
|
3
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
1
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Division of Medical Genetics, University of Washington
|
1
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
3
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
1
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
National Molecular Genetics Centre of Cancer Research, N.N. Alexandrov National Cancer Centre of Belarus
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute
|
0 |
0 |
0 |
2
|
1
|
0 |
0 |
0 |
0 |
0 |
3
|
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London
|
1
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
AiLife Diagnostics, AiLife Diagnostics
|
0 |
1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences
|
1
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Human Genetics Bochum, Ruhr University Bochum
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Institute of Human Genetics, University of Goettingen
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
SIB Swiss Institute of Bioinformatics
|
0 |
0 |
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Liquid Biopsy and Cancer Interception Group, Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
University Health Network, Princess Margaret Cancer Centre
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Genomic Center, National Cancer Institute
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
New York Genome Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
2
|
Genomics And Bioinformatics Analysis Resource, Columbia University
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Karsan Lab, BC Cancer Agency
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Vantari Genetics
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
GenePathDx, GenePath diagnostics
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University Hospital of Duesseldorf
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Human Genetics Unit, University Of Colombo
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Snyder Lab, Genetics Department, Stanford University
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla", Administración Nacional de Laboratorios e Institutos de Salud
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department of Traditional Chinese Medicine, Fujian Provincial Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Cancer Diagnostics Division, Gene Solutions
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Pathology and Clinical Laboratory Medicine, King Fahad Medical City
|
0 |
0 |
0 |
0 |
1
|
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 |
0 |
1
|
1
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain)
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
3billion
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Laboratorio de Investigacion Basica Clinica, Universidad Autonoma de Nuevo Leon
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Oncology - Human Genetics Lab, University of Sao Paulo
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Cancer Genomics Lab, PINUM Cancer Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Martignetti Lab, Icahn School of Medicine at Mount Sinai
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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genetics professional. Individuals should not change their
health behavior solely on the basis of information contained on
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