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 |
62
|
42
|
873
|
744
|
204
|
1
|
1821
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
47
|
25
|
783
|
683
|
93
|
0 |
1631
|
GeneDx
|
3
|
0 |
22
|
2
|
124
|
0 |
151
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
79
|
8
|
35
|
0 |
122
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
8
|
78
|
28
|
0 |
114
|
Ambry Genetics
|
0 |
0 |
62
|
11
|
0 |
0 |
73
|
CeGaT Center for Human Genetics Tuebingen
|
1
|
0 |
5
|
15
|
1
|
0 |
22
|
Athena Diagnostics Inc
|
0 |
1
|
9
|
2
|
8
|
0 |
20
|
Genetic Services Laboratory, University of Chicago
|
1
|
1
|
2
|
1
|
6
|
0 |
11
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
7
|
3
|
1
|
0 |
11
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
1
|
0 |
0 |
4
|
3
|
0 |
8
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
8
|
0 |
8
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
7
|
0 |
0 |
0 |
7
|
OMIM
|
6
|
0 |
0 |
0 |
0 |
0 |
6
|
Revvity Omics, Revvity
|
1
|
3
|
2
|
0 |
0 |
0 |
6
|
Gharavi Laboratory, Columbia University
|
0 |
0 |
6
|
0 |
0 |
0 |
6
|
Mendelics
|
2
|
0 |
0 |
0 |
3
|
0 |
5
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
0 |
5
|
0 |
0 |
5
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
5
|
0 |
0 |
5
|
MGZ Medical Genetics Center
|
2
|
0 |
2
|
0 |
0 |
0 |
4
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
0 |
1
|
3
|
0 |
4
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
0 |
4
|
0 |
0 |
0 |
0 |
4
|
Laboratory of Genetics in Ophthalmology, Institut Imagine
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
New York Genome Center
|
0 |
1
|
3
|
0 |
0 |
0 |
4
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
1
|
0 |
0 |
0 |
2
|
0 |
3
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
0 |
0 |
3
|
0 |
3
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Bionano Laboratories
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Blueprint Genetics
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Baylor Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Eurofins Ntd Llc (ga)
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
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
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
0 |
0 |
1
|
0 |
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
|
Daryl Scott Lab, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Yale Center for Mendelian Genomics, Yale University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Sharon lab, Hadassah-Hebrew University Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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