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 |
other |
not provided |
total |
55
|
24
|
206
|
141
|
102
|
1
|
15
|
464
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
other |
not provided |
total |
Invitae
|
21
|
1
|
85
|
70
|
85
|
0 |
0 |
262
|
GeneDx
|
7
|
1
|
42
|
10
|
23
|
0 |
0 |
83
|
Ambry Genetics
|
2
|
0 |
30
|
14
|
5
|
0 |
0 |
51
|
PreventionGenetics, part of Exact Sciences
|
0 |
2
|
7
|
31
|
4
|
0 |
0 |
44
|
Eurofins Ntd Llc (ga)
|
4
|
0 |
17
|
2
|
4
|
0 |
0 |
27
|
CeGaT Center for Human Genetics Tuebingen
|
1
|
1
|
10
|
15
|
0 |
0 |
0 |
27
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
7
|
9
|
3
|
0 |
0 |
19
|
ITMI
|
0 |
0 |
0 |
0 |
0 |
0 |
13
|
13
|
OMIM
|
10
|
0 |
0 |
0 |
0 |
0 |
0 |
10
|
Revvity Omics, Revvity
|
3
|
0 |
5
|
0 |
0 |
0 |
0 |
8
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
3
|
3
|
0 |
0 |
0 |
6
|
Baylor Genetics
|
0 |
2
|
2
|
0 |
0 |
0 |
0 |
4
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
1
|
3
|
0 |
0 |
0 |
4
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
4
|
0 |
0 |
0 |
0 |
4
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
1
|
1
|
2
|
0 |
0 |
4
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
1
|
0 |
2
|
0 |
0 |
3
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Genome Sciences Centre, British Columbia Cancer Agency
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
|
0 |
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Gharavi Laboratory, Columbia University
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
3
|
0 |
0 |
3
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
0 |
2
|
0 |
0 |
2
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Eye Genetics Research Group, Children's Medical Research Institute
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
2
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Daryl Scott Lab, Baylor College of Medicine
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
2
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
1
|
0 |
1
|
0 |
0 |
2
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Molecular Medicine, University of Pavia
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
New York Genome Center
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
3billion
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Mendelics
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Donald Williams Parsons Laboratory, Baylor College of Medicine
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Center for Molecular Medicine, Children’s Hospital of Fudan University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MutSpliceDB: a database of splice sites variants effects on splicing, NIH
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Neurosurgery, Yale University School of Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Molecular Genetics laboratory, Necker Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of Medical Laboratory, Affiliated Hospital of Southwest Medical University
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genomics England Pilot Project, Genomics England
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Diagnostics Laboratory, University of Rochester Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
DECIPHERD-UDD, Universidad del Desarrollo
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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