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 |
65
|
28
|
433
|
216
|
40
|
2
|
719
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
49
|
3
|
348
|
189
|
33
|
0 |
622
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
54
|
14
|
20
|
0 |
89
|
Ambry Genetics
|
0 |
0 |
35
|
3
|
0 |
0 |
38
|
PreventionGenetics, part of Exact Sciences
|
1
|
3
|
0 |
14
|
13
|
0 |
31
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
12
|
1
|
12
|
0 |
25
|
Blueprint Genetics
|
3
|
7
|
8
|
0 |
0 |
0 |
18
|
OMIM
|
12
|
0 |
0 |
0 |
0 |
0 |
12
|
GeneDx
|
4
|
1
|
4
|
1
|
2
|
0 |
12
|
CeGaT Center for Human Genetics Tuebingen
|
2
|
1
|
3
|
4
|
1
|
0 |
11
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
2
|
0 |
2
|
4
|
1
|
0 |
9
|
Sharon lab, Hadassah-Hebrew University Medical Center
|
5
|
3
|
0 |
0 |
0 |
0 |
8
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
2
|
2
|
2
|
0 |
6
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
3
|
1
|
0 |
0 |
4
|
Molecular Genetics Laboratory, Institute for Ophthalmic Research
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Revvity Omics, Revvity
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Institute of Medical Molecular Genetics, University of Zurich
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
2
|
0 |
0 |
0 |
1
|
0 |
3
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Mendelics
|
0 |
0 |
1
|
0 |
1
|
0 |
2
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Ocular Genomics Institute, Massachusetts Eye and Ear
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
3billion
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Genomics England Pilot Project, Genomics England
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Baylor Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Goettingen
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
NEI Ophthalmic Genomics Laboratory, National Institutes of Health
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Department of Ophthalmology and Visual Sciences Kyoto University
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory of Genetics in Ophthalmology, Institut Imagine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of Ophthalmology, California Pacific Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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