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 |
593
|
95
|
1410
|
1108
|
215
|
21
|
3170
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
358
|
23
|
1007
|
837
|
115
|
0 |
2340
|
Ambry Genetics
|
164
|
23
|
594
|
403
|
25
|
0 |
1209
|
GeneDx
|
29
|
5
|
35
|
90
|
72
|
0 |
231
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
50
|
21
|
22
|
0 |
93
|
Sema4, Sema4
|
0 |
1
|
34
|
26
|
23
|
0 |
84
|
Genetic Diagnostic Laboratory, University of Pennsylvania School of Medicine
|
65
|
0 |
2
|
0 |
0 |
0 |
67
|
Baylor Genetics
|
5
|
3
|
57
|
0 |
0 |
0 |
65
|
PreventionGenetics, part of Exact Sciences
|
5
|
1
|
10
|
29
|
13
|
0 |
58
|
Mendelics
|
5
|
3
|
19
|
8
|
15
|
0 |
50
|
Eurofins Ntd Llc (ga)
|
20
|
0 |
10
|
0 |
7
|
0 |
37
|
CeGaT Center for Human Genetics Tuebingen
|
2
|
0 |
3
|
23
|
5
|
0 |
33
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
15
|
1
|
16
|
0 |
0 |
0 |
32
|
OMIM
|
28
|
0 |
0 |
0 |
0 |
0 |
28
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
2
|
7
|
3
|
3
|
12
|
0 |
27
|
Department of Pediatrics, Memorial Sloan Kettering Cancer Center
|
20
|
4
|
0 |
0 |
0 |
0 |
24
|
Color Diagnostics, LLC DBA Color Health
|
0 |
0 |
5
|
3
|
12
|
0 |
20
|
Genetics and Molecular Pathology, SA Pathology
|
15
|
3
|
2
|
0 |
0 |
0 |
20
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
4
|
0 |
0 |
6
|
4
|
0 |
14
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
0 |
0 |
2
|
12
|
0 |
14
|
ITMI
|
0 |
0 |
0 |
0 |
0 |
13
|
13
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
|
0 |
0 |
5
|
5
|
2
|
0 |
12
|
Fulgent Genetics, Fulgent Genetics
|
3
|
0 |
7
|
1
|
0 |
0 |
11
|
Database of Curated Mutations (DoCM)
|
0 |
10
|
0 |
0 |
0 |
0 |
10
|
Department of Ophthalmology, Shanghai Ninth people hospital, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University
|
10
|
0 |
0 |
0 |
0 |
0 |
10
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
3
|
0 |
4
|
2
|
0 |
0 |
9
|
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan
|
6
|
2
|
1
|
0 |
0 |
0 |
9
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
0 |
2
|
3
|
1
|
0 |
7
|
Genetics Program, Instituto Nacional de Cancer
|
7
|
0 |
0 |
0 |
0 |
0 |
7
|
MutSpliceDB: a database of splice sites variants effects on splicing, NIH
|
0 |
0 |
0 |
0 |
0 |
6
|
6
|
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University
|
0 |
3
|
0 |
0 |
3
|
0 |
6
|
Laboratory of Urology, Hospital Clinic de Barcelona
|
5
|
0 |
1
|
0 |
0 |
0 |
6
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
4
|
1
|
0 |
0 |
0 |
0 |
5
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
1
|
3
|
0 |
0 |
4
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
1
|
3
|
0 |
0 |
0 |
0 |
4
|
Liquid Biopsy and Cancer Interception Group, Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research
|
2
|
0 |
1
|
0 |
1
|
0 |
4
|
Biesecker Lab/Clinical Genomics Section, National Institutes of Health
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Revvity Omics, Revvity
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Medgenome Labs Pvt Ltd
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
3
|
0 |
3
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
1
|
0 |
1
|
0 |
2
|
Richard Lifton Laboratory, Yale University School of Medicine
|
0 |
2
|
1
|
0 |
0 |
0 |
2
|
Medical Molecular Genetics, University of Birmingham
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
0 |
1
|
1
|
0 |
2
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
deCODE genetics, Amgen
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Centogene AG - the Rare Disease Company
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genome Sciences Centre, British Columbia Cancer Agency
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Center for Personalized Medicine, Children's Hospital Los Angeles
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of Molecular Diagnostics, Institute of Oncology Ljubljana
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Johns Hopkins Genomics, Johns Hopkins University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Medical Sciences, Banaras Hindu University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Pediatric Genetics Clinic, Sheba Medical Center
|
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
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Arcensus
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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