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 |
101
|
81
|
313
|
402
|
104
|
1
|
878
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
36
|
12
|
56
|
360
|
37
|
0 |
501
|
Eurofins Ntd Llc (ga)
|
34
|
5
|
161
|
5
|
12
|
0 |
217
|
GeneDx
|
3
|
5
|
19
|
40
|
79
|
0 |
146
|
PreventionGenetics, part of Exact Sciences
|
8
|
11
|
40
|
42
|
12
|
0 |
113
|
Illumina Laboratory Services, Illumina
|
1
|
1
|
47
|
7
|
11
|
0 |
65
|
CeGaT Center for Human Genetics Tuebingen
|
6
|
6
|
10
|
6
|
2
|
0 |
30
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
2
|
6
|
17
|
3
|
1
|
0 |
29
|
Rolfs Rare Disease Consulting, Rolfs Consulting Und Verwaltungs GmbH
|
16
|
9
|
1
|
0 |
0 |
0 |
26
|
Mendelics
|
10
|
6
|
7
|
0 |
1
|
0 |
24
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
3
|
19
|
0 |
0 |
0 |
0 |
22
|
Ambry Genetics
|
0 |
0 |
21
|
0 |
0 |
0 |
21
|
Mayo Clinic Laboratories, Mayo Clinic
|
2
|
0 |
16
|
0 |
0 |
0 |
18
|
Revvity Omics, Revvity
|
1
|
3
|
12
|
0 |
0 |
0 |
16
|
OMIM
|
13
|
0 |
0 |
0 |
0 |
0 |
13
|
Baylor Genetics
|
3
|
1
|
5
|
0 |
0 |
0 |
9
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
7
|
0 |
7
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
6
|
0 |
6
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
1
|
1
|
4
|
0 |
0 |
0 |
6
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
2
|
0 |
0 |
2
|
1
|
0 |
5
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
0 |
0 |
5
|
0 |
5
|
Fulgent Genetics, Fulgent Genetics
|
1
|
0 |
3
|
0 |
0 |
0 |
4
|
3billion
|
1
|
1
|
2
|
0 |
0 |
0 |
4
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
1
|
3
|
0 |
0 |
0 |
0 |
4
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
3
|
0 |
0 |
0 |
4
|
Centogene AG - the Rare Disease Company
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
2
|
0 |
1
|
0 |
0 |
3
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
1
|
0 |
1
|
0 |
2
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Gregorio Maranon General University Hospital, Gregorio Maranon Health Research Institute
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Pathology and Clinical Laboratory Medicine, King Fahad Medical City
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Lifecell International Pvt. Ltd
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Genomics And Bioinformatics Analysis Resource, Columbia University
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Ege University Pediatric Genetics, Ege University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SIB Swiss Institute of Bioinformatics
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University Hospital Muenster
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
DASA
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Psychiatry, The University of Hong Kong
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Immunology and Genetics Kaiserslautern
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
State Key Laboratory for Diagnosis & Treatment of Infectious Diseases, First Affiliated Hospital, School Of Medicine, Zhejiang University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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