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 |
219
|
75
|
202
|
35
|
53
|
1
|
553
|
Gene and significance breakdown #
Total genes and gene combinations: 6
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
120
|
35
|
34
|
7
|
2
|
0 |
198
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
127
|
12
|
52
|
0 |
191
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
48
|
16
|
1
|
2
|
1
|
0 |
68
|
Urologic Oncology Branch, National Institutes of Health
|
50
|
0 |
0 |
0 |
0 |
0 |
50
|
Counsyl
|
1
|
0 |
31
|
10
|
0 |
0 |
42
|
Clinical Genomics Labs, University Health Network
|
10
|
9
|
5
|
3
|
0 |
0 |
27
|
Myriad Genetics, Inc.
|
14
|
6
|
0 |
1
|
0 |
0 |
21
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
14
|
5
|
0 |
0 |
0 |
0 |
19
|
OMIM
|
17
|
0 |
0 |
0 |
0 |
0 |
17
|
Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS)
|
9
|
0 |
1
|
0 |
0 |
0 |
10
|
Mendelics
|
0 |
2
|
5
|
0 |
1
|
0 |
8
|
Genetics and Molecular Pathology, SA Pathology
|
3
|
2
|
2
|
0 |
0 |
0 |
7
|
Center for Human Genetics, Inc, Center for Human Genetics, Inc
|
6
|
0 |
0 |
0 |
0 |
0 |
6
|
CSER _CC_NCGL, University of Washington
|
0 |
0 |
2
|
3
|
0 |
0 |
5
|
Color Diagnostics, LLC DBA Color Health
|
0 |
0 |
2
|
0 |
3
|
0 |
5
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
1
|
0 |
4
|
0 |
0 |
0 |
5
|
Johns Hopkins Genomics, Johns Hopkins University
|
3
|
1
|
1
|
0 |
0 |
0 |
5
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
0 |
1
|
3
|
1
|
0 |
5
|
CIViC knowledgebase, Washington University School of Medicine
|
3
|
1
|
0 |
0 |
0 |
0 |
4
|
Baylor Genetics
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
Department of Pharmacy, The First Affiliated Hospital of Zhengzhou University
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Institute of Human Genetics, Cologne University
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
MGZ Medical Genetics Center
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Invitae
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Department of Molecular Diagnostics, Institute of Oncology Ljubljana
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genetic Services Laboratory, University of Chicago
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Preventiongenetics, part of Exact Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Donald Williams Parsons Laboratory, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department of Pediatrics, Memorial Sloan Kettering Cancer Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Cavalleri Lab, Royal College of Surgeons in Ireland
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
deCODE genetics, Amgen
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Swedish Neurofibromatosis Center, Swedish Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of Neurosurgery, Peking University First Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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