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 |
82
|
43
|
439
|
989
|
113
|
5
|
1517
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
55
|
18
|
80
|
883
|
57
|
0 |
1093
|
Ambry Genetics
|
20
|
9
|
184
|
120
|
12
|
0 |
345
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
158
|
15
|
21
|
0 |
195
|
GeneDx
|
2
|
2
|
29
|
46
|
52
|
0 |
131
|
Johns Hopkins Genomics, Johns Hopkins University
|
5
|
5
|
27
|
15
|
3
|
0 |
55
|
PreventionGenetics, part of Exact Sciences
|
5
|
0 |
7
|
24
|
3
|
0 |
39
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
3
|
8
|
8
|
13
|
0 |
33
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
3
|
4
|
12
|
0 |
0 |
0 |
19
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
1
|
2
|
12
|
0 |
0 |
15
|
Revvity Omics, Revvity
|
2
|
2
|
10
|
0 |
0 |
0 |
14
|
Alder lab, University of Pittsburgh
|
0 |
1
|
12
|
0 |
0 |
0 |
13
|
Eurofins Ntd Llc (ga)
|
1
|
0 |
8
|
3
|
0 |
0 |
12
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
8
|
2
|
0 |
0 |
10
|
OMIM
|
7
|
0 |
0 |
0 |
0 |
0 |
7
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
0 |
6
|
0 |
0 |
0 |
6
|
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
|
1
|
0 |
5
|
0 |
0 |
0 |
6
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
6
|
0 |
6
|
Cole and Hamvas Lab, Washington University - St. Louis
|
0 |
0 |
0 |
0 |
0 |
5
|
5
|
Baylor Genetics
|
1
|
0 |
3
|
0 |
0 |
0 |
4
|
Mendelics
|
2
|
0 |
0 |
0 |
2
|
0 |
4
|
Center for Personalized Medicine, Children's Hospital Los Angeles
|
1
|
2
|
1
|
0 |
0 |
0 |
4
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
2
|
1
|
0 |
0 |
3
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
1
|
0 |
0 |
1
|
0 |
0 |
2
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Clinical Genomics Program, Stanford Medicine
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Institute of Human Genetics, University Hospital Muenster
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Department of Human Genetics, Hannover Medical School
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Athena Diagnostics Inc
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Science for Life laboratory, Karolinska Institutet
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
AiLife Diagnostics, AiLife Diagnostics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genoks Genetic Disorders Diagnostic Laboratory
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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