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 |
|---|---|---|---|---|---|
| 9 | 3 | 2 | 0 | 0 | 14 |
Gene and significance breakdown #
Total genes and gene combinations: 13
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| METTL5 | 2 | 0 | 0 | 2 |
| AIPL1 | 0 | 0 | 1 | 1 |
| ARL3 | 1 | 0 | 0 | 1 |
| CDH23 | 1 | 0 | 0 | 1 |
| ESPN | 1 | 0 | 0 | 1 |
| FOXE3, LINC01389 | 0 | 1 | 0 | 1 |
| GJA3 | 0 | 1 | 0 | 1 |
| GUCY2D | 0 | 1 | 0 | 1 |
| MERTK | 1 | 0 | 0 | 1 |
| PCDH15 | 1 | 0 | 0 | 1 |
| SOX4 | 0 | 0 | 1 | 1 |
| TBCEL-TECTA, TECTA | 1 | 0 | 0 | 1 |
| TMC1 | 1 | 0 | 0 | 1 |
Condition and significance breakdown #
Total conditions: 13
| Condition | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| Intellectual disability, severe | 2 | 0 | 0 | 2 |
| Autosomal recessive nonsyndromic hearing loss 12 | 1 | 0 | 0 | 1 |
| Autosomal recessive nonsyndromic hearing loss 21 | 1 | 0 | 0 | 1 |
| Autosomal recessive nonsyndromic hearing loss 23 | 1 | 0 | 0 | 1 |
| Autosomal recessive nonsyndromic hearing loss 7 | 1 | 0 | 0 | 1 |
| Cataract 14 multiple types | 0 | 1 | 0 | 1 |
| Congenital primary aphakia | 0 | 1 | 0 | 1 |
| Intellectual disability | 0 | 0 | 1 | 1 |
| Leber congenital amaurosis 1 | 0 | 1 | 0 | 1 |
| Leber congenital amaurosis 4 | 0 | 0 | 1 | 1 |
| Progressive cone degeneration | 1 | 0 | 0 | 1 |
| Retinitis pigmentosa 38 | 1 | 0 | 0 | 1 |
| Usher syndrome type 1 | 1 | 0 | 0 | 1 |