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 | other | total |
|---|---|---|---|---|---|---|
| 38 | 29 | 128 | 8 | 2 | 1 | 203 |
Gene and significance breakdown #
Total genes and gene combinations: 6
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | other | total |
|---|---|---|---|---|---|---|---|
| CHEK2 | 16 | 18 | 88 | 2 | 0 | 0 | 122 |
| TP53 | 16 | 10 | 19 | 5 | 2 | 0 | 51 |
| RB1 | 5 | 0 | 20 | 1 | 0 | 0 | 26 |
| RECQL4 | 1 | 1 | 0 | 0 | 0 | 0 | 2 |
| CDKN2A | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| TSC2 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
Submitter and significance breakdown #
Total submitters: 10
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | other | total |
|---|---|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 30 | 24 | 126 | 8 | 2 | 0 | 189 |
| Juno Genomics, Hangzhou Juno Genomics, Inc | 5 | 1 | 0 | 0 | 0 | 0 | 6 |
| OMIM | 4 | 0 | 0 | 0 | 0 | 0 | 4 |
| St. Jude Molecular Pathology, St. Jude Children's Research Hospital | 1 | 1 | 1 | 0 | 0 | 0 | 3 |
| Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago | 0 | 1 | 1 | 0 | 0 | 0 | 2 |
| Donald Williams Parsons Laboratory, Baylor College of Medicine | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| Genetics and Molecular Pathology, SA Pathology | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Clinical Genetics Laboratory, University Hospital Schleswig-Holstein | 1 | 0 | 0 | 0 | 0 | 0 | 1 |