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 | not provided | total |
|---|---|---|---|---|---|---|
| 482 | 355 | 1179 | 1851 | 231 | 5 | 3563 |
Condition and significance breakdown #
| Condition | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| not provided | 284 | 111 | 609 | 1809 | 227 | 0 | 2807 |
| Autosomal recessive nonsyndromic hearing loss 3 | 241 | 234 | 370 | 22 | 43 | 5 | 838 |
| Inborn genetic diseases | 7 | 1 | 359 | 22 | 0 | 0 | 389 |
| not specified | 0 | 2 | 148 | 142 | 73 | 0 | 353 |
| MYO15A-related disorder | 6 | 10 | 17 | 56 | 8 | 0 | 97 |
| Rare genetic deafness | 27 | 20 | 2 | 0 | 0 | 0 | 49 |
| Hearing impairment | 3 | 7 | 10 | 0 | 0 | 0 | 20 |
| Hearing loss, autosomal recessive | 3 | 9 | 7 | 0 | 0 | 0 | 19 |
| Nonsyndromic genetic hearing loss | 5 | 4 | 1 | 4 | 2 | 0 | 16 |
| Childhood onset hearing loss | 0 | 1 | 5 | 0 | 0 | 0 | 6 |
| Ear malformation | 2 | 4 | 0 | 0 | 0 | 0 | 6 |
| Congenital sensorineural hearing impairment | 1 | 1 | 1 | 0 | 0 | 0 | 3 |
| Alport syndrome | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal recessive nonsyndromic hearing loss 9 | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| Deafness, with smith-magenis syndrome | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| Nonsyndromic genetic hearing loss; Rare genetic deafness | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| Sensorineural hearing loss disorder | 1 | 0 | 0 | 0 | 0 | 0 | 1 |