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 |
|
10
|
6
|
80
|
3
|
2
|
100
|
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
RDX
|
10
|
6
|
80
|
3
|
2
|
100
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
77
|
2
|
0 |
79
|
|
OMIM
|
4
|
0 |
0 |
0 |
0 |
4
|
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
2
|
1
|
0 |
3
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
2
|
2
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
1
|
1
|
0 |
0 |
0 |
2
|
|
Laboratory of Molecular Medicine of IMOMA, Instituto de Medicina Oncológica y Molecular de Asturias
|
1
|
1
|
0 |
0 |
0 |
2
|
|
3billion
|
0 |
1
|
0 |
0 |
0 |
1
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
0 |
0 |
1
|
1
|
|
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Dr.Nikuei Genetic Center
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Genetics Laboratory, Department of Biology, Semnan University
|
1
|
0 |
0 |
0 |
0 |
1
|
|
King Laboratory, University of Washington
|
0 |
1
|
0 |
0 |
0 |
1
|
|
MVZ Medizinische Genetik Mainz
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Miami Human Genetics, University Of Miami Miller School Of Medicine
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Revvity Omics, Revvity
|
0 |
1
|
0 |
0 |
0 |
1
|
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