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 |
|
18
|
19
|
25
|
5
|
9
|
73
|
Gene and significance breakdown #
Total genes and gene combinations: 4
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
NFKB1
|
17
|
17
|
22
|
5
|
9
|
67
|
|
LOC126807127, NFKB1
|
1
|
1
|
1
|
0 |
0 |
3
|
|
NFKBID
|
0 |
0 |
2
|
0 |
0 |
2
|
|
BANK1, BDH2, CENPE, CISD2, MANBA, NFKB1, SLC39A8, SLC9B1, SLC9B2, TACR3, UBE2D3
|
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
2
|
3
|
6
|
11
|
|
OMIM
|
10
|
0 |
0 |
0 |
0 |
10
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
4
|
2
|
0 |
0 |
0 |
6
|
|
Revvity Omics, Revvity
|
1
|
0 |
4
|
0 |
0 |
5
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
1
|
4
|
0 |
0 |
5
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
1
|
1
|
0 |
0 |
4
|
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
2
|
2
|
0 |
4
|
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
2
|
1
|
0 |
0 |
3
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
3
|
0 |
0 |
3
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
3
|
3
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
2
|
1
|
0 |
0 |
3
|
|
Baylor Genetics
|
0 |
0 |
2
|
0 |
0 |
2
|
|
Institute of Human Genetics, Cologne University
|
0 |
2
|
0 |
0 |
0 |
2
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
2
|
0 |
0 |
0 |
2
|
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
0 |
2
|
0 |
0 |
0 |
2
|
|
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini
|
0 |
0 |
2
|
0 |
0 |
2
|
|
Paediatric Laboratory, Institute for Maternal and Child Health - IRCCS Burlo Garofolo
|
0 |
1
|
1
|
0 |
0 |
2
|
|
Mendelics
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Department of Immunology, University Hospital Southampton NHSFT
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Immunology Clinic, Ucla
|
1
|
0 |
0 |
0 |
0 |
1
|
|
University of Washington Department of Laboratory Medicine, University of Washington
|
0 |
1
|
0 |
0 |
0 |
1
|
|
New York Genome Center
|
0 |
1
|
0 |
0 |
0 |
1
|
|
3billion
|
1
|
0 |
0 |
0 |
0 |
1
|
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