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 total
35 12 465 149 59 712

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
LRBA 31 12 462 149 59 705
LRBA, MAB21L2 3 0 1 0 0 4
LOC108281188, LRBA 1 0 2 0 0 3

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 26 5 447 145 56 679
Baylor Genetics 0 0 14 0 0 14
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 2 2 8 12
OMIM 6 0 0 0 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 5 0 0 6
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 1 0 3 2 0 6
Mendelics 1 2 1 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 3
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 2 2
Department of Molecular and Human Genetics, Baylor College of Medicine 2 0 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 1 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 2 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 1
New York Genome Center 0 0 1 0 0 1

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