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 | risk factor | not provided | total |
|---|---|---|---|---|---|---|---|
| 0 | 236 | 0 | 0 | 0 | 1 | 1 | 238 |
Gene and significance breakdown #
Total genes and gene combinations: 15
| Gene or gene combination | likely pathogenic | risk factor | not provided | total |
|---|---|---|---|---|
| TP53 | 162 | 0 | 0 | 162 |
| PIK3CA | 31 | 0 | 0 | 31 |
| EGFR | 10 | 0 | 0 | 10 |
| IDH1 | 5 | 0 | 0 | 5 |
| NRAS | 5 | 0 | 0 | 5 |
| BRAF | 4 | 0 | 0 | 4 |
| IDH2 | 4 | 0 | 0 | 4 |
| PTEN | 4 | 0 | 0 | 4 |
| ALK | 3 | 0 | 0 | 3 |
| PTPN11 | 3 | 0 | 0 | 3 |
| CTNNB1, LOC126806658 | 2 | 0 | 0 | 2 |
| PIK3R1 | 2 | 0 | 0 | 2 |
| ACRBP | 0 | 1 | 0 | 1 |
| H3-3A | 1 | 0 | 0 | 1 |
| TSC2 | 0 | 0 | 1 | 1 |
Submitter and significance breakdown #
Total submitters: 3
| Submitter | likely pathogenic | risk factor | not provided | total |
|---|---|---|---|---|
| Database of Curated Mutations (DoCM) | 236 | 0 | 0 | 236 |
| Tuberous sclerosis database (TSC2) | 0 | 0 | 1 | 1 |
| Department of Neurosurgery, Guangxi Colleges and Universities Key Laboratory of Preclinical Medicine Research | 0 | 1 | 0 | 1 |