ClinVar Miner

Variants studied for combined immunodeficiency due to LRBA deficiency

Included ClinVar conditions (1):
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 total
11 1 82 19 40 150

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
LRBA 10 1 80 19 40 147
LOC108281188, LRBA 1 0 2 0 0 3

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 5 0 76 18 38 137
OMIM 6 0 0 0 0 6
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 3 0 0 3
Fulgent Genetics 0 0 3 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 2 0 0 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 2 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 1 2

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