ClinVar Miner

Variants in gene LRBA

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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 not provided total
84 54 1024 724 157 6 1962

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Combined immunodeficiency due to LRBA deficiency 77 37 909 683 100 4 1781
not provided 5 16 122 36 67 2 239
Inborn genetic diseases 0 0 100 4 0 0 104
not specified 1 1 20 20 34 0 68
LRBA-related condition 0 1 7 39 5 0 52
See cases 0 0 5 0 0 0 5
Inherited Immunodeficiency Diseases 1 1 2 0 0 0 4
Severe combined immunodeficiency due to CORO1A deficiency 1 1 0 0 0 0 2
Hirschsprung disease, susceptibility to, 1 0 0 1 0 0 0 1
Long QT syndrome 0 0 0 1 0 0 1
Schizophrenia 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 61
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 68 18 880 676 99 0 1741
Ambry Genetics 0 0 100 4 0 0 104
GeneDx 0 2 29 2 62 0 95
CeGaT Center for Human Genetics Tuebingen 5 8 38 27 4 0 82
PreventionGenetics, part of Exact Sciences 0 1 7 39 5 0 52
Eurofins Ntd Llc (ga) 0 1 26 7 5 0 39
Genetic Services Laboratory, University of Chicago 0 1 13 11 9 0 34
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 2 9 8 11 0 31
Mayo Clinic Laboratories, Mayo Clinic 0 1 20 0 0 0 21
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
Fulgent Genetics, Fulgent Genetics 0 1 10 3 0 0 14
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 4 5 3 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
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 6 4 0 10
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 2 7 0 0 0 10
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 3 6 0 0 0 9
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 1 7 0 8
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 2 1 4 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 4 0 3 0 7
3billion 2 4 1 0 0 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 AG - the Rare Disease Company 1 2 1 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
Genetics and Molecular Pathology, SA Pathology 0 0 2 1 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 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
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 2 0 0 0 2
Hadassah Hebrew University Medical Center 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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 2 0 0 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
AiLife Diagnostics, AiLife Diagnostics 0 0 2 0 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
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 1 0 0 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 1 0 0 0 1
Medical Research Institute, Tokyo Medical and Dental University 0 0 0 1 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
Servicio de Inmunologia, Hospital Universitario Virgen del Rocio 1 0 0 0 0 0 1
Department of Psychiatry, The University of Hong Kong 0 0 1 0 0 0 1

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