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 |
8
|
12
|
8
|
0 |
5
|
30
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
benign |
total |
OMIM
|
8
|
0 |
0 |
0 |
8
|
Genome-Nilou Lab
|
0 |
0 |
0 |
5
|
5
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
4
|
0 |
0 |
4
|
Baylor Genetics
|
0 |
0 |
3
|
0 |
3
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
1
|
0 |
0 |
2
|
Molecular Biology Laboratory, Fundació Puigvert
|
0 |
2
|
0 |
0 |
2
|
Suma Genomics
|
0 |
2
|
0 |
0 |
2
|
Revvity Omics, Revvity
|
0 |
0 |
1
|
0 |
1
|
Institute of Human Genetics, Cologne University
|
0 |
0 |
1
|
0 |
1
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
1
|
0 |
0 |
1
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
1
|
0 |
1
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
1
|
0 |
0 |
0 |
1
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
0 |
0 |
1
|
0 |
1
|
Center for Molecular Medicine, Children’s Hospital of Fudan University
|
0 |
1
|
0 |
0 |
1
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
1
|
0 |
1
|
Solve-RD Consortium
|
0 |
1
|
0 |
0 |
1
|
Breakthrough Genomics, Breakthrough Genomics
|
1
|
0 |
0 |
0 |
1
|
Fetal Health Research Center, Hope Generation Foundation
|
0 |
1
|
0 |
0 |
1
|
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