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 |
other |
total |
20
|
82
|
100
|
22
|
11
|
12
|
242
|
Gene and significance breakdown #
Total genes and gene combinations: 32
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
other |
total |
Illumina Laboratory Services, Illumina
|
0 |
0 |
62
|
21
|
10
|
0 |
93
|
Database of Curated Mutations (DoCM)
|
1
|
78
|
0 |
0 |
0 |
0 |
79
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
3
|
3
|
37
|
0 |
0 |
0 |
43
|
OMIM
|
12
|
0 |
0 |
0 |
0 |
0 |
12
|
Donald Williams Parsons Laboratory, Baylor College of Medicine
|
0 |
0 |
0 |
0 |
0 |
12
|
12
|
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Baylor Genetics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MGZ Medical Genetics Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Mendelics
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department of Pediatrics, Memorial Sloan Kettering Cancer Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Institute of Human Genetics, University Hospital Muenster
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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