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 |
not provided |
total |
33
|
26
|
881
|
856
|
178
|
4
|
1788
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
21
|
8
|
405
|
551
|
54
|
0 |
1039
|
Color Diagnostics, LLC DBA Color Health
|
0 |
0 |
406
|
337
|
45
|
0 |
788
|
Ambry Genetics
|
2
|
0 |
228
|
222
|
15
|
0 |
465
|
GeneDx
|
1
|
6
|
136
|
167
|
138
|
0 |
448
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
2
|
33
|
34
|
43
|
0 |
112
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
73
|
13
|
13
|
0 |
99
|
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
|
0 |
0 |
39
|
36
|
21
|
0 |
96
|
Fulgent Genetics, Fulgent Genetics
|
0 |
1
|
65
|
7
|
0 |
0 |
73
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
6
|
47
|
18
|
0 |
71
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
1
|
22
|
22
|
21
|
0 |
66
|
CeGaT Center for Human Genetics Tuebingen
|
2
|
0 |
16
|
37
|
1
|
0 |
56
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
4
|
20
|
8
|
0 |
32
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
0 |
23
|
9
|
0 |
31
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
4
|
25
|
1
|
0 |
30
|
AiLife Diagnostics, AiLife Diagnostics
|
0 |
3
|
24
|
0 |
0 |
0 |
27
|
Center for Human Genetics, Inc, Center for Human Genetics, Inc
|
0 |
0 |
6
|
19
|
0 |
0 |
25
|
Blueprint Genetics
|
0 |
1
|
13
|
0 |
2
|
0 |
16
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
2
|
2
|
10
|
0 |
14
|
Revvity Omics, Revvity
|
0 |
0 |
14
|
0 |
0 |
0 |
14
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
0 |
6
|
5
|
0 |
11
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
6
|
1
|
2
|
0 |
9
|
OMIM
|
8
|
0 |
0 |
0 |
0 |
0 |
8
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
8
|
0 |
0 |
0 |
8
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
5
|
1
|
0 |
0 |
6
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
5
|
1
|
0 |
0 |
6
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
6
|
0 |
6
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
MGZ Medical Genetics Center
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
CSER _CC_NCGL, University of Washington
|
0 |
0 |
2
|
2
|
0 |
0 |
4
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
2
|
2
|
0 |
0 |
4
|
Baylor Genetics
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Institute of Human Genetics, University Hospital Muenster
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Department of Vascular Biology, Beijing Anzhen Hospital
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Genetic Services Laboratory, University of Chicago
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Mendelics
|
1
|
0 |
0 |
0 |
1
|
0 |
2
|
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Molecular Diagnostics Laboratory, Hospital Sainte-Justine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ClinVar Staff, National Center for Biotechnology Information (NCBI)
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Centre for Genomic and Experimental Medicine, University of Edinburgh
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
1
|
0 |
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 |
1
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
3billion
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Heart Medical Centre, First Affiliated Hospital of Gannan Medical University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center for Medical Genetics and Genomics, The Second Affiliated Hospital of Guangxi Medical University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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