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 |
77
|
43
|
247
|
125
|
85
|
38
|
502
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
45
|
8
|
153
|
81
|
14
|
0 |
301
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
80
|
42
|
65
|
0 |
136
|
Retina International
|
0 |
0 |
0 |
0 |
0 |
38
|
38
|
GeneDx
|
2
|
6
|
5
|
5
|
15
|
0 |
33
|
Blueprint Genetics
|
6
|
9
|
4
|
0 |
0 |
0 |
19
|
CeGaT Center for Human Genetics Tuebingen
|
1
|
5
|
4
|
3
|
0 |
0 |
13
|
Ambry Genetics
|
0 |
0 |
12
|
0 |
0 |
0 |
12
|
Laboratory of Genetics in Ophthalmology, Institut Imagine
|
12
|
0 |
0 |
0 |
0 |
0 |
12
|
Eurofins Ntd Llc (ga)
|
1
|
1
|
3
|
2
|
4
|
0 |
11
|
OMIM
|
10
|
0 |
0 |
0 |
0 |
0 |
10
|
Mendelics
|
3
|
2
|
1
|
2
|
0 |
0 |
8
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
0 |
4
|
3
|
0 |
0 |
0 |
7
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
0 |
1
|
3
|
0 |
4
|
Department of Ophthalmology and Visual Sciences Kyoto University
|
2
|
1
|
0 |
1
|
0 |
0 |
4
|
Preventiongenetics, part of Exact Sciences
|
0 |
1
|
0 |
0 |
2
|
0 |
3
|
Clinical Genetics, Academic Medical Center
|
0 |
1
|
0 |
2
|
0 |
0 |
3
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals
|
0 |
2
|
1
|
0 |
0 |
0 |
3
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
1
|
0 |
1
|
1
|
0 |
0 |
3
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Faculty of Health Sciences, Beirut Arab University
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
3billion
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
0 |
1
|
1
|
0 |
2
|
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Broad Institute Rare Disease Group, Broad Institute
|
0 |
0 |
1
|
0 |
1
|
0 |
2
|
Institute of Vision Research, Yonsei University College of Medicine
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
DBGen Ocular Genomics
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Genomics England Pilot Project, Genomics England
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
MGZ Medical Genetics Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Medical Molecular Genetics, University of Zurich
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Science for Life laboratory, Karolinska Institutet
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Molecular and Human Genetics, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Sharon lab, Hadassah-Hebrew University Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Medical Genetics Laboratory, West China Hospital, Sichuan University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University Hospital Muenster
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genome-Nilou Lab
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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