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 |
27
|
5
|
73
|
10
|
21
|
131
|
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 |
64
|
9
|
21
|
94
|
OMIM
|
21
|
0 |
0 |
0 |
0 |
21
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
|
6
|
0 |
1
|
0 |
0 |
7
|
Athena Diagnostics
|
0 |
0 |
0 |
0 |
3
|
3
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
1
|
1
|
1
|
0 |
0 |
3
|
3billion
|
0 |
1
|
1
|
1
|
0 |
3
|
Fulgent Genetics, Fulgent Genetics
|
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
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
0 |
2
|
0 |
0 |
2
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
2
|
2
|
Neuberg Centre For Genomic Medicine, NCGM
|
1
|
0 |
1
|
0 |
0 |
2
|
Mendelics
|
0 |
0 |
1
|
0 |
0 |
1
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
1
|
0 |
0 |
1
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
1
|
0 |
0 |
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
0 |
1
|
0 |
0 |
1
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
0 |
1
|
0 |
0 |
0 |
1
|
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
|
SIB Swiss Institute of Bioinformatics
|
0 |
0 |
0 |
0 |
1
|
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
1
|
0 |
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
1
|
Eurofins-Biomnis
|
1
|
0 |
0 |
0 |
0 |
1
|
Breakthrough Genomics, Breakthrough Genomics
|
1
|
0 |
0 |
0 |
0 |
1
|
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