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 |
114
|
58
|
251
|
133
|
90
|
38
|
552
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Labcorp Genetics (formerly Invitae), Labcorp
|
81
|
9
|
139
|
86
|
14
|
0 |
329
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
80
|
42
|
65
|
0 |
136
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
6
|
11
|
32
|
0 |
49
|
Retina International
|
0 |
0 |
0 |
0 |
0 |
38
|
38
|
GeneDx
|
3
|
7
|
7
|
5
|
15
|
0 |
37
|
Ambry Genetics
|
0 |
2
|
22
|
0 |
0 |
0 |
24
|
Dept Of Ophthalmology, Nagoya University
|
2
|
4
|
7
|
2
|
9
|
0 |
24
|
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg
|
5
|
4
|
10
|
1
|
1
|
0 |
21
|
Blueprint Genetics
|
6
|
9
|
4
|
0 |
0 |
0 |
19
|
CeGaT Center for Human Genetics Tuebingen
|
1
|
5
|
5
|
4
|
0 |
0 |
15
|
Laboratory of Genetics in Ophthalmology, Institut Imagine
|
12
|
0 |
0 |
0 |
0 |
0 |
12
|
PreventionGenetics, part of Exact Sciences
|
1
|
1
|
1
|
5
|
3
|
0 |
11
|
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
|
3billion
|
3
|
3
|
0 |
0 |
0 |
0 |
6
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
0 |
1
|
3
|
0 |
4
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
2
|
1
|
1
|
0 |
0 |
4
|
Department of Ophthalmology and Visual Sciences Kyoto University
|
2
|
1
|
0 |
1
|
0 |
0 |
4
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
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
|
SingHealth Duke-NUS Institute of Precision Medicine
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Faculty of Health Sciences, Beirut Arab University
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
0 |
1
|
1
|
0 |
2
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
0 |
1
|
0 |
1
|
0 |
2
|
Institute of Vision Research, Yonsei University College of Medicine
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel
|
1
|
1
|
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
|
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
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
0 |
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
|
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
|
Department of Medical Genetics, Erciyes University Faculty of Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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health behavior solely on the basis of information contained on
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Institutes of Health independently verfies the submitted
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