ClinVar Miner

Variants in gene LRBA

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Gene type:

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
135 82 1233 986 158 84 2530

Condition and significance breakdown #

Total conditions: 40
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Combined immunodeficiency due to LRBA deficiency 128 62 969 911 101 4 2135
Inborn genetic diseases 0 0 371 30 0 0 401
not provided 12 16 170 78 82 2 341
not specified 1 1 27 38 50 0 98
LRBA-related disorder 0 2 18 44 5 0 69
Gastric cancer 0 0 0 0 0 12 12
Uterine corpus endometrial carcinoma 0 0 0 0 0 11 11
Ovarian serous cystadenocarcinoma 0 0 0 0 0 10 10
Acute myeloid leukemia 0 0 0 0 0 8 8
Malignant tumor of esophagus 0 0 0 0 0 7 7
Familial cancer of breast 0 0 0 0 0 6 6
Nonpapillary renal cell carcinoma 0 0 0 0 0 5 5
See cases 0 0 5 0 0 0 5
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 5 5
Cervical cancer 0 0 0 0 0 4 4
Cholangiocarcinoma 0 0 0 0 0 4 4
Hepatocellular carcinoma 0 0 0 0 0 4 4
Inherited Immunodeficiency Diseases 1 1 2 0 0 0 4
Lung cancer 0 0 0 0 0 4 4
Melanoma 0 0 0 0 0 4 4
Meniere disease 0 0 4 0 0 0 4
Squamous cell lung carcinoma 0 0 0 0 0 4 4
Thymoma 0 0 0 0 0 4 4
LRBA deficiency 0 3 0 0 0 0 3
Sarcoma 0 0 0 0 0 3 3
Chronic lymphocytic leukemia/small lymphocytic lymphoma 0 0 0 0 0 2 2
Colon adenocarcinoma 0 0 0 0 0 2 2
Malignant tumor of urinary bladder 0 0 0 0 0 2 2
Papillary renal cell carcinoma type 1 0 0 0 0 0 2 2
Severe combined immunodeficiency due to CORO1A deficiency 1 1 0 0 0 0 2
Uterine carcinosarcoma 0 0 0 0 0 2 2
EBV-positive nodal T- and NK-cell lymphoma 0 0 0 1 0 0 1
Familial pancreatic carcinoma 0 0 0 0 0 1 1
Familial prostate cancer 0 0 0 0 0 1 1
Hirschsprung disease, susceptibility to, 1 0 0 1 0 0 0 1
Long QT syndrome 0 0 0 1 0 0 1
Lymphoma 0 0 0 0 0 1 1
Pancreatic adenocarcinoma 0 0 0 0 0 1 1
Schizophrenia 0 0 1 0 0 0 1
Spastic paraplegia, intellectual disability, nystagmus, and obesity 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 78
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 106 23 924 899 100 0 2052
Ambry Genetics 0 0 371 30 0 0 401
Mayo Clinic Laboratories, Mayo Clinic 1 1 55 32 34 0 123
GeneDx 3 2 38 2 62 0 107
CeGaT Center for Human Genetics Tuebingen 8 8 47 38 5 0 106
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 78 78
PreventionGenetics, part of Exact Sciences 0 2 18 44 5 0 69
Breakthrough Genomics, Breakthrough Genomics 0 0 11 14 40 0 65
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 7 23 18 0 48
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 2 17 13 12 0 45
Eurofins Ntd Llc (ga) 0 1 26 7 5 0 39
Genetic Services Laboratory, University of Chicago 0 1 14 11 9 0 35
Fulgent Genetics, Fulgent Genetics 1 2 16 3 0 0 22
Baylor Genetics 1 1 18 0 0 0 20
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 17 0 17
Blueprint Genetics 0 1 15 0 0 0 16
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 5 7 2 1 0 16
National Institute of Immunohaematology, Indian Council of Medical Research 5 9 2 0 0 0 16
Neuberg Centre For Genomic Medicine, NCGM 1 6 8 0 0 0 15
3billion 6 4 3 1 0 0 14
Revvity Omics, Revvity 0 1 12 0 0 0 13
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 4 5 3 0 12
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 3 9 0 0 0 12
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 9 1 0 0 11
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 6 4 0 10
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 1 7 0 9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 4 0 3 0 7
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 2 1 4 0 7
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 1 0 3 2 0 0 6
OMIM 5 0 0 0 0 0 5
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 2 1 0 0 0 4
Center for Computational Biology & Bioinformatics, University of California, San Diego 0 0 4 0 0 0 4
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 4 0 0 0 4
Mendelics 1 2 1 0 0 0 4
NIHR Bioresource Rare Diseases, University of Cambridge 1 1 2 0 0 0 4
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 1 2 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 1 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 2 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 0 0 2 1 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 2 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 3 0 0 0 3
New York Genome Center 0 0 3 0 0 0 3
Next Generation Genetic Polyclinic 1 2 0 0 0 0 3
AiLife Diagnostics, AiLife Diagnostics 0 0 2 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 2 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 0 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 2 0 0 2
Department of Human Genetics, Hannover Medical School 0 0 2 0 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 0 0 0 2 0 0 2
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 2 0 0 0 0 2
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 1 1 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 1 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 0 0 2
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 1 1 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 2 0 0 0 0 2
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 1
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 0 0 1 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 1
Department of Pediatric Immunology and Leukocyte Biology, National Institute of Immunohaematology (NIIH), Indian Council of Medical Research (ICMR) 1 0 0 0 0 0 1
Department of Psychiatry, The University of Hong Kong 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Medical Research Institute, Tokyo Medical and Dental University 0 0 0 1 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Servicio de Inmunologia, Hospital Universitario Virgen del Rocio 1 0 0 0 0 0 1
Yong Wu Laboratory, Medical Research Institute, Shenzhen Baoan Women’s and Children’s Hospital 0 1 0 0 0 0 1

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