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 |
15
|
10
|
127
|
27
|
32
|
1
|
206
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Illumina Laboratory Services, Illumina
|
1
|
0 |
94
|
23
|
29
|
0 |
147
|
Fulgent Genetics, Fulgent Genetics
|
0 |
1
|
9
|
0 |
0 |
0 |
10
|
OMIM
|
9
|
0 |
0 |
0 |
0 |
0 |
9
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
9
|
0 |
9
|
Baylor Genetics
|
0 |
0 |
8
|
0 |
0 |
0 |
8
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
1
|
7
|
0 |
0 |
0 |
8
|
Laboratory of Prof. Karen Avraham, Tel Aviv University
|
3
|
3
|
0 |
0 |
0 |
0 |
6
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
1
|
2
|
0 |
0 |
0 |
4
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
0 |
1
|
3
|
0 |
0 |
0 |
4
|
3billion
|
2
|
0 |
2
|
0 |
0 |
0 |
4
|
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital
|
0 |
0 |
0 |
3
|
0 |
0 |
3
|
Institute of Human Genetics, University of Goettingen
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
King Laboratory, University of Washington
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Mendelics
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
The Shared Resource Centre "Genome", Research Centre for Medical Genetics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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