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 |
|---|---|---|---|---|---|
| 7 | 5 | 4 | 0 | 0 | 12 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| LRBA, MAB21L2 | 7 | 5 | 4 | 12 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| OMIM | 5 | 0 | 0 | 5 |
| Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine | 0 | 4 | 0 | 4 |
| Genetics Department, University Hospital of Toulouse | 0 | 1 | 1 | 2 |
| Baylor Genetics | 0 | 0 | 1 | 1 |
| Centogene AG - the Rare Disease Company | 1 | 0 | 0 | 1 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 0 | 0 | 1 | 1 |
| Daryl Scott Lab, Baylor College of Medicine | 1 | 0 | 0 | 1 |
| Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City | 1 | 0 | 0 | 1 |
| Laboratory of Medical Genetics, National & Kapodistrian University of Athens | 1 | 0 | 0 | 1 |
| Clinical Genomics Program, Stanford Medicine | 0 | 0 | 1 | 1 |
| Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 1 | 0 | 0 | 1 |