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 |
123
|
84
|
296
|
452
|
29
|
16
|
915
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
89
|
27
|
209
|
426
|
9
|
0 |
760
|
Natera, Inc.
|
13
|
1
|
61
|
11
|
3
|
0 |
89
|
Baylor Genetics
|
26
|
44
|
6
|
0 |
0 |
0 |
76
|
Fulgent Genetics, Fulgent Genetics
|
8
|
4
|
40
|
17
|
0 |
0 |
69
|
Leiden Open Variation Database
|
41
|
1
|
10
|
0 |
0 |
0 |
52
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
40
|
5
|
5
|
0 |
50
|
GeneDx
|
5
|
2
|
3
|
7
|
14
|
0 |
31
|
Sema4, Sema4
|
0 |
1
|
19
|
10
|
0 |
0 |
30
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
16
|
5
|
2
|
0 |
23
|
PreventionGenetics, part of Exact Sciences
|
2
|
1
|
4
|
11
|
2
|
0 |
20
|
Ambry Genetics
|
0 |
0 |
11
|
1
|
0 |
0 |
12
|
CeGaT Center for Human Genetics Tuebingen
|
4
|
0 |
1
|
6
|
1
|
0 |
12
|
Revvity Omics, Revvity
|
3
|
3
|
5
|
0 |
0 |
0 |
11
|
ITMI
|
0 |
0 |
0 |
0 |
0 |
11
|
11
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
0 |
0 |
11
|
0 |
0 |
0 |
11
|
Genome-Nilou Lab
|
0 |
2
|
3
|
3
|
3
|
0 |
11
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
1
|
0 |
9
|
0 |
0 |
0 |
10
|
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology
|
5
|
2
|
2
|
0 |
0 |
0 |
9
|
OMIM
|
8
|
0 |
0 |
0 |
0 |
0 |
8
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
4
|
1
|
3
|
0 |
0 |
0 |
8
|
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University
|
0 |
2
|
0 |
0 |
6
|
0 |
8
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
4
|
4
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
0 |
0 |
1
|
3
|
0 |
4
|
Mendelics
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Kariminejad - Najmabadi Pathology & Genetics Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
CZECANCA consortium
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Human Developmental Genetics, Institut Pasteur
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Lifecell International Pvt. Ltd
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
3billion
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Suma Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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health behavior solely on the basis of information contained on
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Institutes of Health independently verfies the submitted
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