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 | likely risk allele | total |
|---|---|---|---|---|---|---|
| 3 | 0 | 0 | 0 | 0 | 1 | 4 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely risk allele | total |
|---|---|---|---|
| KCNH2 | 2 | 0 | 2 |
| CYP27B1 | 0 | 1 | 1 |
| SCN5A | 1 | 0 | 1 |
Condition and significance breakdown #
Total conditions: 4
| Condition | pathogenic | likely risk allele | total |
|---|---|---|---|
| Congenital long QT syndrome | 1 | 0 | 1 |
| Long QT syndrome | 1 | 0 | 1 |
| Vitamin D-dependent rickets, type 1A | 0 | 1 | 1 |
| not provided | 1 | 0 | 1 |