ClinVar Miner

Variants studied for Combined immunodeficiency due to LRBA deficiency

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
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 63 976 911 101 4 2150

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
LRBA 128 62 969 911 101 4 2135
LRBA, MAB21L2 4 1 3 0 0 0 8
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 #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 111 24 930 898 100 0 2063
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 11 10 12 0 33
Fulgent Genetics, Fulgent Genetics 1 2 16 3 0 0 22
Baylor Genetics 1 1 18 0 0 0 20
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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 5 7 0 1 0 14
Revvity Omics, Revvity 0 1 12 0 0 0 13
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 9 1 0 0 11
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 3 4 0 0 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
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 4 0 0 0 4
Mendelics 1 2 1 0 0 0 4
Department of Human Genetics, Hannover Medical School 0 0 3 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
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
Mayo Clinic Laboratories, Mayo Clinic 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
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
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 1 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 1 0 2
Department of Molecular and Human Genetics, Baylor College of Medicine 2 0 0 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 Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 2 0 2
Genome-Nilou Lab 0 0 0 0 2 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
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
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 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
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 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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