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 |
risk factor |
not provided |
total |
86
|
93
|
1022
|
580
|
115
|
1
|
3
|
1640
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
not provided |
total |
Invitae
|
72
|
17
|
598
|
378
|
43
|
0 |
0 |
1108
|
Color Diagnostics, LLC DBA Color Health
|
1
|
0 |
414
|
214
|
39
|
0 |
0 |
668
|
Ambry Genetics
|
12
|
8
|
218
|
160
|
21
|
0 |
0 |
419
|
GeneDx
|
14
|
24
|
122
|
83
|
78
|
0 |
0 |
321
|
Illumina Laboratory Services, Illumina
|
0 |
1
|
103
|
33
|
11
|
0 |
0 |
148
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
2
|
5
|
50
|
36
|
20
|
0 |
1
|
114
|
Fulgent Genetics, Fulgent Genetics
|
3
|
8
|
71
|
13
|
3
|
0 |
0 |
98
|
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
|
0 |
5
|
36
|
12
|
31
|
0 |
0 |
84
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
1
|
26
|
31
|
15
|
0 |
0 |
73
|
Clinical Genetics, Academic Medical Center
|
1
|
0 |
7
|
4
|
52
|
0 |
0 |
64
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
1
|
0 |
4
|
35
|
19
|
0 |
0 |
59
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
1
|
1
|
4
|
26
|
21
|
0 |
0 |
53
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
1
|
1
|
4
|
16
|
21
|
0 |
0 |
43
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
8
|
17
|
16
|
0 |
0 |
41
|
Biesecker Lab/Clinical Genomics Section, National Institutes of Health
|
0 |
0 |
14
|
7
|
12
|
0 |
0 |
33
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
1
|
7
|
10
|
14
|
0 |
0 |
32
|
CeGaT Center for Human Genetics Tuebingen
|
1
|
9
|
5
|
13
|
2
|
0 |
0 |
30
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
1
|
20
|
8
|
0 |
0 |
29
|
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute
|
0 |
3
|
9
|
6
|
10
|
0 |
0 |
28
|
Blueprint Genetics
|
1
|
3
|
17
|
0 |
0 |
0 |
0 |
21
|
AiLife Diagnostics, AiLife Diagnostics
|
2
|
4
|
11
|
0 |
0 |
0 |
0 |
17
|
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego
|
0 |
2
|
4
|
3
|
6
|
0 |
0 |
15
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
4
|
3
|
4
|
0 |
0 |
11
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
11
|
0 |
0 |
0 |
0 |
11
|
OMIM
|
10
|
0 |
0 |
0 |
0 |
1
|
0 |
10
|
Cohesion Phenomics
|
0 |
0 |
0 |
1
|
9
|
0 |
0 |
10
|
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
|
2
|
6
|
0 |
0 |
0 |
0 |
0 |
8
|
CSER _CC_NCGL, University of Washington
|
0 |
1
|
6
|
1
|
0 |
0 |
0 |
8
|
Stanford Center for Inherited Cardiovascular Disease, Stanford University
|
0 |
1
|
6
|
1
|
0 |
0 |
0 |
8
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
4
|
1
|
1
|
0 |
0 |
6
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
2
|
4
|
0 |
0 |
0 |
0 |
6
|
Molecular Genetics Laboratory - Cardiogenetics, CHU de Nantes
|
1
|
0 |
4
|
0 |
0 |
0 |
0 |
5
|
Revvity Omics, Revvity
|
0 |
1
|
2
|
1
|
0 |
0 |
0 |
4
|
Mendelics
|
1
|
0 |
1
|
0 |
2
|
0 |
0 |
4
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
0 |
2
|
1
|
0 |
0 |
0 |
4
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
3
|
1
|
0 |
0 |
0 |
0 |
4
|
Baylor Genetics
|
1
|
1
|
1
|
0 |
0 |
0 |
0 |
3
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
3
|
Phosphorus, Inc.
|
0 |
0 |
1
|
2
|
0 |
0 |
0 |
3
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
1
|
1
|
0 |
0 |
0 |
0 |
3
|
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Klaassen Lab, Charite University Medicine Berlin
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
2
|
New York Genome Center
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Dept of Medical Biology, Uskudar University
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
MGZ Medical Genetics Center
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Centre of Medical Genetics, University of Antwerp
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Donald Williams Parsons Laboratory, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Breda Genetics srl
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genetics and Genomics Program, Sidra Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Division of Medical Genetics, University of Washington
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
3billion
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genomics England Pilot Project, Genomics England
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Human Genetics Bochum, Ruhr University Bochum
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genotypic Technology Pvt Ltd
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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