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 |
total |
33
|
33
|
13
|
8
|
6
|
83
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Natera, Inc.
|
2
|
0 |
6
|
8
|
6
|
22
|
Baylor Genetics
|
10
|
2
|
1
|
0 |
0 |
13
|
OMIM
|
11
|
0 |
0 |
0 |
0 |
11
|
Counsyl
|
3
|
8
|
0 |
0 |
0 |
11
|
3billion
|
3
|
7
|
0 |
0 |
0 |
10
|
Institute of Medical Molecular Genetics, University of Zurich
|
0 |
6
|
0 |
0 |
0 |
6
|
Fulgent Genetics, Fulgent Genetics
|
4
|
0 |
0 |
0 |
0 |
4
|
Molecular Genetics Laboratory, Institute for Ophthalmic Research
|
3
|
0 |
0 |
0 |
0 |
3
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
2
|
1
|
0 |
0 |
3
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
1
|
1
|
0 |
0 |
3
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
2
|
0 |
0 |
0 |
0 |
2
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
1
|
0 |
0 |
2
|
SIB Swiss Institute of Bioinformatics
|
0 |
2
|
0 |
0 |
0 |
2
|
Ocular Genomics Institute, Massachusetts Eye and Ear
|
0 |
2
|
0 |
0 |
0 |
2
|
Myriad Genetics, Inc.
|
1
|
1
|
0 |
0 |
0 |
2
|
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel
|
1
|
1
|
0 |
0 |
0 |
2
|
MGZ Medical Genetics Center
|
0 |
1
|
0 |
0 |
0 |
1
|
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation
|
0 |
0 |
1
|
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
0 |
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
0 |
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
1
|
0 |
0 |
0 |
0 |
1
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
1
|
0 |
0 |
1
|
Genome-Nilou Lab
|
1
|
0 |
0 |
0 |
0 |
1
|
Sydney Genome Diagnostics, Children's Hospital Westmead
|
0 |
1
|
0 |
0 |
0 |
1
|
Suma Genomics
|
0 |
0 |
1
|
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
1
|
0 |
0 |
0 |
1
|
DBGen Ocular Genomics
|
0 |
1
|
0 |
0 |
0 |
1
|
Genomics England Pilot Project, Genomics England
|
1
|
0 |
0 |
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
1
|
0 |
0 |
0 |
1
|
Siriraj Ophthalmic Genetics Research, Faculty of Medicine Siriraj Hospital, Mahidol University
|
1
|
0 |
0 |
0 |
0 |
1
|
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