ClinVar Miner

Variants in gene LRBA

See also:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
30 25 380 110 69 578

Condition and significance breakdown #

Total conditions: 8
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Common variable immunodeficiency 8, with autoimmunity 25 10 333 56 58 475
not provided 2 12 63 48 5 127
not specified 1 1 6 12 12 29
Inherited Immunodeficiency Diseases 1 1 2 0 0 4
Immunodeficiency type 8 1 1 0 0 0 2
Hirschsprung disease 1 0 0 1 0 0 1
Long QT syndrome 0 0 0 1 0 1
See cases 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 27
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 19 4 327 90 58 498
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 1 26 7 5 39
CeGaT Praxis fuer Humangenetik Tuebingen 2 7 19 9 0 37
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 2 8 6 5 22
Blueprint Genetics 0 1 15 0 0 16
GeneDx 0 2 4 2 1 9
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 0 1 7 8
OMIM 5 0 0 0 0 5
Mendelics 1 2 1 0 0 4
NIHR Bioresource Rare Diseases, University of Cambridge 1 1 2 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 3 0 0 4
Genetic Services Laboratory, University of Chicago 0 0 2 1 0 3
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 3 0 0 3
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 3
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics, Cincinnati Children's Hospital Medical Center 0 0 0 0 2 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 1 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 2 2
Centogene AG - the Rare Disease Company 1 1 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 2 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 1 2
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 0 1 0 0 1
Lineagen, Inc 0 0 1 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 1 0 0 1
Medical Research Institute,Tokyo Medical and Dental University 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 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.