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 |
|
169
|
145
|
1814
|
1829
|
213
|
125
|
3993
|
Condition and significance breakdown #
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Labcorp Genetics (formerly Invitae), Labcorp
|
148
|
28
|
1388
|
1683
|
86
|
0 |
3333
|
|
Ambry Genetics
|
1
|
0 |
406
|
49
|
0 |
0 |
456
|
|
GeneDx
|
5
|
4
|
83
|
35
|
118
|
0 |
245
|
|
Mayo Clinic Laboratories, Mayo Clinic
|
2
|
0 |
133
|
65
|
42
|
0 |
242
|
|
Illumina Laboratory Services, Illumina
|
0 |
1
|
170
|
12
|
22
|
0 |
205
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
3
|
2
|
73
|
62
|
2
|
0 |
142
|
|
Revvity Omics, Revvity
|
9
|
3
|
126
|
0 |
0 |
0 |
138
|
|
PreventionGenetics, part of Exact Sciences
|
1
|
3
|
28
|
71
|
33
|
0 |
136
|
|
Fulgent Genetics, Fulgent Genetics
|
3
|
30
|
50
|
7
|
0 |
0 |
90
|
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
12
|
30
|
47
|
0 |
89
|
|
CeGaT Center for Human Genetics Tuebingen
|
4
|
1
|
25
|
54
|
5
|
0 |
89
|
|
Genome Diagnostics Laboratory, The Hospital for Sick Children
|
0 |
2
|
48
|
22
|
12
|
0 |
84
|
|
Baylor Genetics
|
7
|
63
|
9
|
0 |
0 |
0 |
79
|
|
Dr. Peter K. Rogan Lab, Western University
|
0 |
0 |
0 |
0 |
0 |
74
|
74
|
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
40
|
40
|
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
3
|
30
|
3
|
0 |
36
|
|
Genetic Services Laboratory, University of Chicago
|
1
|
1
|
14
|
12
|
1
|
0 |
29
|
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
1
|
2
|
23
|
0 |
26
|
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
1
|
18
|
6
|
0 |
25
|
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
17
|
4
|
0 |
0 |
21
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
19
|
1
|
0 |
0 |
20
|
|
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan
|
0 |
0 |
0 |
0 |
18
|
0 |
18
|
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
1
|
11
|
4
|
0 |
16
|
|
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology
|
0 |
3
|
7
|
0 |
0 |
0 |
10
|
|
OMIM
|
10
|
0 |
0 |
0 |
0 |
0 |
10
|
|
Eurofins Ntd Llc (ga)
|
0 |
1
|
5
|
2
|
0 |
0 |
8
|
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
0 |
1
|
7
|
0 |
8
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
7
|
7
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
4
|
1
|
2
|
0 |
0 |
7
|
|
Laboratory of Genetics, Children's Clinical University Hospital Latvia
|
0 |
0 |
0 |
2
|
5
|
0 |
7
|
|
Center for Computational Biology & Bioinformatics, University of California, San Diego
|
0 |
0 |
6
|
0 |
0 |
0 |
6
|
|
Dubai Health Genomic Medicine Center, Dubai Health
|
1
|
2
|
1
|
1
|
1
|
0 |
6
|
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
5
|
5
|
|
Blueprint Genetics
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
0 |
2
|
2
|
0 |
4
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
2
|
2
|
0 |
0 |
0 |
4
|
|
New York Genome Center
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
|
Birmingham Platelet Group; University of Birmingham
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
|
Johns Hopkins Genomics, Johns Hopkins University
|
2
|
0 |
0 |
1
|
0 |
0 |
3
|
|
Mendelics
|
0 |
0 |
1
|
1
|
1
|
0 |
3
|
|
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
|
3billion
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Fan Lab, Zhengzhou University
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
Laboratory of Immunopathology and Genetics, Medical Laboratory of Pediatric Oncology and Hematology, Central Clinical Hospital of the Medical University of Lodz
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
DBGen Ocular Genomics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Dasa
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Department of Clinical Pathology, School of Medicine, Fujita Health University
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
Department of Genetics, Sultan Qaboos University Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Department of Genetics, Suzhou Beikang Medical Laboratory
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Hadassah Hebrew University Medical Center
|
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
|
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
Laboratoire de Génome Humain et Maladies Multifactorielles, Monastir Universite
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
Scripps Translational Science Institute, Scripps Health and The Scripps Research Institute
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Variantyx, Inc.
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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