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 |
21
|
6
|
120
|
14
|
17
|
1
|
175
|
Gene and significance breakdown #
Total genes and gene combinations: 4
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Illumina Laboratory Services, Illumina
|
0 |
0 |
96
|
11
|
15
|
0 |
122
|
Fulgent Genetics, Fulgent Genetics
|
1
|
0 |
14
|
4
|
0 |
0 |
19
|
OMIM
|
15
|
0 |
0 |
0 |
0 |
0 |
15
|
Mendelics
|
2
|
0 |
1
|
0 |
1
|
0 |
4
|
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi
|
1
|
3
|
0 |
0 |
0 |
0 |
4
|
Revvity Omics, Revvity
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
3
|
0 |
3
|
3billion
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
American University of Beirut, Same Uiversity Hospital
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
0 |
1
|
0 |
1
|
0 |
2
|
Molecular Genetics Laboratory, Biocruces Bizkaia Health Research Institute
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Eurofins-Biomnis
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Lab, Department of Haematology, Christian Medical College
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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