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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Gene type:
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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
90 48 920 684 100 4 1812

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 83 47 914 684 100 4 1798
LRBA, MAB21L2 4 1 2 0 0 0 7
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: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 78 22 887 673 99 0 1759
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 Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 5 6 0 1 0 12
Neuberg Centre For Genomic Medicine, NCGM 1 4 7 0 0 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
3billion 2 4 1 1 0 0 8
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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 3 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 0 0 2 1 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 2 0 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
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
Department of Human Genetics, Hannover Medical School 0 0 2 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 Laboratory, 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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