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 |
|---|---|---|---|---|---|
| 19 | 10 | 192 | 132 | 25 | 361 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| STX11 | 18 | 10 | 190 | 132 | 24 | 357 |
| LOC129997366, STX11 | 0 | 0 | 2 | 0 | 1 | 3 |
| FUCA2, HYMAI, LTV1, PEX3, PHACTR2, PLAGL1, SF3B5, STX11, ZC2HC1B | 1 | 0 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Invitae | 13 | 0 | 114 | 123 | 5 | 255 |
| Illumina Laboratory Services, Illumina | 0 | 0 | 81 | 7 | 23 | 111 |
| Baylor Genetics | 2 | 10 | 0 | 0 | 0 | 12 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 3 | 2 | 0 | 5 |
| OMIM | 4 | 0 | 0 | 0 | 0 | 4 |
| Mendelics | 3 | 0 | 1 | 0 | 0 | 4 |
| Revvity Omics, Revvity | 0 | 0 | 1 | 0 | 0 | 1 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 0 | 0 | 1 | 0 | 0 | 1 |
| Division of Human Genetics, Children's Hospital of Philadelphia | 0 | 1 | 0 | 0 | 0 | 1 |
| Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City | 0 | 0 | 1 | 0 | 0 | 1 |
| Johns Hopkins Genomics, Johns Hopkins University | 0 | 0 | 1 | 0 | 0 | 1 |
| Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein | 0 | 0 | 1 | 0 | 0 | 1 |