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 |
|
29
|
7
|
80
|
10
|
19
|
138
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
61
|
9
|
19
|
89
|
|
OMIM
|
21
|
0 |
0 |
0 |
0 |
21
|
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
|
6
|
0 |
1
|
0 |
0 |
7
|
|
Fulgent Genetics, Fulgent Genetics
|
3
|
0 |
3
|
0 |
0 |
6
|
|
3billion
|
1
|
1
|
2
|
1
|
0 |
5
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
5
|
0 |
0 |
5
|
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
2
|
1
|
1
|
0 |
0 |
4
|
|
Athena Diagnostics
|
0 |
0 |
0 |
0 |
3
|
3
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
2
|
0 |
1
|
0 |
0 |
3
|
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
0 |
0 |
3
|
0 |
0 |
3
|
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
0 |
2
|
0 |
0 |
2
|
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
2
|
0 |
0 |
0 |
2
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
2
|
2
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
1
|
0 |
1
|
0 |
0 |
2
|
|
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Breakthrough Genomics, Breakthrough Genomics
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Centro de Investigaciones Endocrinológicas “Dr. César Bergadá” (CEDIE), Unidad de Investigacion Traslacional (UIT), Hospital de Niños Dr. Ricardo Gutiérrez
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Eurofins-Biomnis
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Institute of Human Genetics Munich, TUM University Hospital
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Institute of Human Genetics, Heidelberg University
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Mendelics
|
0 |
0 |
1
|
0 |
0 |
1
|
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
1
|
0 |
0 |
0 |
0 |
1
|
|
SIB Swiss Institute of Bioinformatics
|
0 |
0 |
0 |
0 |
1
|
1
|
|
Suma Genomics
|
0 |
1
|
0 |
0 |
0 |
1
|
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