ClinVar Miner

Variants studied for combined immunodeficiency due to LRBA deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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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 39 916 683 100 4 1795

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 77 39 911 683 100 4 1783
LRBA, MAB21L2 4 0 1 0 0 0 5
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: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 73 18 885 673 99 0 1748
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
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
Neuberg Centre For Genomic Medicine, NCGM 1 2 7 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

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