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 |
not provided |
total |
|
37
|
21
|
168
|
42
|
31
|
1
|
285
|
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
BRIP1
|
37
|
21
|
168
|
42
|
31
|
1
|
285
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
97
|
14
|
24
|
0 |
135
|
|
Counsyl
|
1
|
8
|
35
|
30
|
11
|
0 |
85
|
|
Revvity Omics, Revvity
|
22
|
6
|
13
|
0 |
0 |
0 |
41
|
|
Mendelics
|
1
|
1
|
25
|
0 |
1
|
0 |
28
|
|
Leiden Open Variation Database
|
10
|
0 |
1
|
0 |
0 |
0 |
11
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
4
|
4
|
0 |
0 |
0 |
0 |
8
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
7
|
0 |
0 |
0 |
7
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
3
|
2
|
1
|
0 |
6
|
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
1
|
0 |
4
|
0 |
0 |
0 |
5
|
|
Baylor Genetics
|
1
|
0 |
3
|
0 |
0 |
0 |
4
|
|
OMIM
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Pathway Genomics
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
King Laboratory, University of Washington
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
MGZ Medical Genetics Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
IntelligeneCG
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
Daryl Scott Lab, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Istanbul Faculty of Medicine, Istanbul University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
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.