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 |
89
|
45
|
918
|
683
|
100
|
4
|
1808
|
Gene and significance breakdown #
Total genes and gene combinations: 8
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
LRBA
|
82
|
44
|
912
|
683
|
100
|
4
|
1794
|
LRBA, MAB21L2
|
4
|
1
|
2
|
0 |
0 |
0 |
7
|
LOC123493218, LRBA
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
LOC108281188, LOC123493218, LOC129993220, LRBA
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LOC108281188, LOC129993220, LRBA
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LOC108281188, LOC129993221, LOC129993222, LOC129993223, LRBA
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LOC123493216, LOC129993219, LRBA
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LOC129993220, LRBA
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
78
|
22
|
887
|
673
|
99
|
0 |
1759
|
Baylor Genetics
|
1
|
1
|
18
|
0 |
0 |
0 |
20
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
3
|
5
|
11
|
0 |
19
|
Fulgent Genetics, Fulgent Genetics
|
0 |
1
|
10
|
3
|
0 |
0 |
14
|
Neuberg Centre For Genomic Medicine, NCGM
|
1
|
4
|
7
|
0 |
0 |
0 |
12
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
1
|
9
|
1
|
0 |
0 |
11
|
Revvity Omics, Revvity
|
0 |
1
|
9
|
0 |
0 |
0 |
10
|
3billion
|
2
|
4
|
1
|
0 |
0 |
0 |
7
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
1
|
5
|
0 |
1
|
0 |
7
|
OMIM
|
6
|
0 |
0 |
0 |
0 |
0 |
6
|
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini
|
1
|
0 |
3
|
2
|
0 |
0 |
6
|
Mendelics
|
1
|
2
|
1
|
0 |
0 |
0 |
4
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
3
|
1
|
0 |
0 |
0 |
4
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
2
|
1
|
0 |
0 |
3
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
New York Genome Center
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Centogene AG - the Rare Disease Company
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Department of Molecular and Human Genetics, Baylor College of Medicine
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Hadassah Hebrew University Medical Center
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
1
|
1
|
0 |
2
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Clinical Genomics Program, Stanford Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Servicio de Inmunologia, Hospital Universitario Virgen del Rocio
|
1
|
0 |
0 |
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.