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 |
30
|
33
|
127
|
21
|
37
|
7
|
248
|
Gene and significance breakdown #
Total genes and gene combinations: 7
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Illumina Laboratory Services, Illumina
|
0 |
0 |
69
|
11
|
14
|
0 |
94
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
27
|
0 |
27
|
Baylor Genetics
|
2
|
2
|
20
|
0 |
0 |
0 |
24
|
OMIM
|
20
|
0 |
0 |
0 |
0 |
0 |
20
|
Revvity Omics, Revvity
|
1
|
4
|
11
|
0 |
0 |
0 |
16
|
Fulgent Genetics, Fulgent Genetics
|
0 |
1
|
4
|
5
|
0 |
0 |
10
|
3billion
|
2
|
4
|
1
|
0 |
0 |
0 |
7
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
4
|
1
|
0 |
0 |
6
|
New York Genome Center
|
0 |
0 |
6
|
0 |
0 |
0 |
6
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
3
|
1
|
2
|
0 |
0 |
0 |
6
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
1
|
1
|
4
|
0 |
0 |
0 |
6
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
4
|
0 |
0 |
0 |
0 |
5
|
Service de Génétique Moléculaire, Hôpital Robert Debré
|
1
|
0 |
0 |
4
|
0 |
0 |
5
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
3
|
2
|
0 |
0 |
0 |
5
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Medical Genetics Laboratory, Tarbiat Modares University
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
Genetic Services Laboratory, University of Chicago
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Mendelics
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
TIDEX, University of British Columbia
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Génétique des Maladies du Développement, Hospices Civils de Lyon
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Tehran Medical Genetics Laboratory
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department of Biochemistry, Faculty of Medicine, University of Khartoum
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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