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 |
|
16
|
17
|
17
|
4
|
7
|
58
|
Gene and significance breakdown #
Total genes and gene combinations: 4
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
NFKB1
|
15
|
15
|
14
|
4
|
7
|
52
|
|
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 |
|
OMIM
|
10
|
0 |
0 |
0 |
0 |
10
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
1
|
2
|
4
|
7
|
|
Revvity Omics, Revvity
|
1
|
0 |
4
|
0 |
0 |
5
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
3
|
2
|
0 |
0 |
0 |
5
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
1
|
1
|
0 |
0 |
4
|
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
1
|
2
|
0 |
3
|
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
2
|
1
|
0 |
0 |
3
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
3
|
3
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
1
|
2
|
0 |
0 |
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
|
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
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
|
|
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
|
|
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
|
The information on this website is not intended for direct
diagnostic use or medical decision-making without review by a
genetics professional. Individuals should not change their
health behavior solely on the basis of information contained on
this website. Neither the University of Utah nor the National
Institutes of Health independently verfies the submitted
information. If you have questions about the information
contained on this website, please see a health care
professional.