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 |
9
|
2
|
49
|
3
|
7
|
68
|
Gene and significance breakdown #
Total genes and gene combinations: 4
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
PIGV
|
7
|
2
|
48
|
3
|
7
|
65
|
PIGB
|
0 |
0 |
1
|
0 |
0 |
1
|
PIGG
|
1
|
0 |
0 |
0 |
0 |
1
|
PIGO
|
1
|
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Illumina Laboratory Services, Illumina
|
1
|
0 |
37
|
1
|
7
|
46
|
Fulgent Genetics, Fulgent Genetics
|
1
|
0 |
4
|
2
|
1
|
8
|
OMIM
|
6
|
0 |
0 |
0 |
0 |
6
|
Baylor Genetics
|
0 |
0 |
6
|
0 |
0 |
6
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
4
|
1
|
0 |
5
|
Revvity Omics, Revvity
|
0 |
0 |
4
|
0 |
0 |
4
|
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn
|
3
|
0 |
0 |
0 |
0 |
3
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
2
|
0 |
0 |
0 |
0 |
2
|
Mayo Clinic Laboratories, Mayo Clinic
|
1
|
1
|
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
1
|
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
1
|
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
1
|
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
0 |
1
|
0 |
0 |
1
|
Department of Clinical Genetics, Medical University of Lodz
|
1
|
0 |
0 |
0 |
0 |
1
|
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