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 |
affects |
not provided |
total |
|
97
|
160
|
1363
|
830
|
316
|
4
|
50
|
2525
|
Condition and significance breakdown #
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
affects |
not provided |
total |
|
Labcorp Genetics (formerly Invitae), Labcorp
|
65
|
23
|
505
|
552
|
141
|
0 |
0 |
1286
|
|
Fulgent Genetics, Fulgent Genetics
|
15
|
76
|
515
|
51
|
2
|
0 |
0 |
659
|
|
Ambry Genetics
|
4
|
0 |
457
|
70
|
0 |
0 |
0 |
531
|
|
GeneDx
|
7
|
7
|
85
|
127
|
213
|
0 |
0 |
439
|
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
217
|
34
|
76
|
0 |
0 |
327
|
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
13
|
60
|
95
|
0 |
0 |
168
|
|
PreventionGenetics, part of Exact Sciences
|
7
|
8
|
24
|
99
|
14
|
0 |
0 |
152
|
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
1
|
28
|
14
|
69
|
0 |
0 |
112
|
|
CeGaT Center for Human Genetics Tuebingen
|
1
|
2
|
25
|
35
|
2
|
0 |
0 |
65
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
2
|
1
|
20
|
9
|
31
|
0 |
0 |
63
|
|
Dr. Peter K. Rogan Lab, Western University
|
0 |
0 |
0 |
0 |
0 |
0 |
47
|
47
|
|
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)
|
0 |
27
|
0 |
0 |
0 |
0 |
0 |
27
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
25
|
0 |
0 |
25
|
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
3
|
9
|
11
|
0 |
0 |
0 |
0 |
23
|
|
Revvity Omics, Revvity
|
7
|
3
|
9
|
0 |
0 |
0 |
0 |
19
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
2
|
0 |
7
|
7
|
0 |
0 |
0 |
16
|
|
MVZ Medizinische Genetik Mainz
|
7
|
3
|
4
|
0 |
0 |
0 |
0 |
14
|
|
3billion
|
3
|
4
|
6
|
0 |
0 |
0 |
0 |
13
|
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
1
|
0 |
1
|
6
|
4
|
0 |
0 |
12
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
6
|
1
|
5
|
0 |
0 |
0 |
0 |
12
|
|
Eurofins Ntd Llc (ga)
|
2
|
0 |
6
|
3
|
0 |
0 |
0 |
11
|
|
OMIM
|
6
|
0 |
0 |
0 |
0 |
4
|
0 |
10
|
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
6
|
3
|
0 |
0 |
9
|
|
First Genomix Gene Laboratory, Genetic Diagnostics Department
|
1
|
6
|
0 |
0 |
0 |
0 |
0 |
7
|
|
Gharavi Laboratory, Columbia University
|
0 |
0 |
7
|
0 |
0 |
0 |
0 |
7
|
|
Baylor Genetics
|
0 |
0 |
6
|
0 |
0 |
0 |
0 |
6
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
3
|
3
|
0 |
0 |
0 |
0 |
6
|
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
2
|
1
|
0 |
2
|
0 |
0 |
6
|
|
Variantyx, Inc.
|
1
|
5
|
0 |
0 |
0 |
0 |
0 |
6
|
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
0 |
4
|
0 |
0 |
0 |
0 |
4
|
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
2
|
0 |
2
|
0 |
0 |
0 |
0 |
4
|
|
Laboratory of Genetics, Children's Clinical University Hospital Latvia
|
0 |
1
|
0 |
3
|
0 |
0 |
0 |
4
|
|
Molecular Biology Laboratory, Fundació Puigvert
|
1
|
3
|
0 |
0 |
0 |
0 |
0 |
4
|
|
New York Genome Center
|
0 |
0 |
4
|
0 |
0 |
0 |
0 |
4
|
|
SingHealth Duke-NUS Institute of Precision Medicine
|
0 |
2
|
2
|
0 |
0 |
0 |
0 |
4
|
|
AiLife Diagnostics, AiLife Diagnostics
|
0 |
2
|
1
|
0 |
0 |
0 |
0 |
3
|
|
Centre of Medical Genetics, University Hospital Muenster
|
1
|
0 |
2
|
0 |
0 |
0 |
0 |
3
|
|
Eurofins-Biomnis
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
3
|
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
3
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
0 |
0 |
2
|
0 |
0 |
3
|
|
Athena Diagnostics
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
2
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
|
MGZ Medical Genetics Center
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Mendelics
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Molecular Diagnostics Lab, Nemours Children's Health, Delaware
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
2
|
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Centre for Inherited Metabolic Diseases, Karolinska University Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
|
Clinical Genetics Laboratory, Skane University Hospital Lund
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Department of Pediatric Nephrology, Wuhan Children's Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Gene Friend Way, National Innovation Center
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Inserm U 954, Faculté de Médecine de Nancy
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
|
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain)
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Richard Lifton Laboratory, Yale University School of Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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