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 |
|---|---|---|---|---|---|---|
| 0 | 1 | 25 | 33 | 18 | 1 | 38 |
Condition and significance breakdown #
Total conditions: 17
| Condition | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|
| Combined PSAP deficiency | 1 | 1 | 23 | 11 | 0 | 36 |
| Atypical Gaucher Disease | 0 | 0 | 21 | 10 | 0 | 31 |
| Galactosylceramide beta-galactosidase deficiency | 0 | 0 | 21 | 10 | 0 | 31 |
| Metachromatic leukodystrophy | 0 | 0 | 21 | 10 | 0 | 31 |
| Usher syndrome type 1D | 0 | 20 | 2 | 9 | 0 | 31 |
| Autosomal recessive nonsyndromic hearing loss 12 | 0 | 21 | 3 | 7 | 0 | 30 |
| not provided | 0 | 7 | 20 | 16 | 1 | 25 |
| Hearing loss, autosomal recessive | 0 | 15 | 8 | 0 | 0 | 23 |
| Retinitis pigmentosa-deafness syndrome | 0 | 15 | 8 | 1 | 0 | 23 |
| not specified | 0 | 3 | 4 | 12 | 0 | 16 |
| CDH23-related disorder | 0 | 11 | 1 | 3 | 0 | 14 |
| Usher syndrome type 1 | 0 | 3 | 2 | 8 | 0 | 13 |
| Sphingolipid activator protein 1 deficiency | 0 | 4 | 0 | 3 | 0 | 7 |
| Gaucher disease due to saposin C deficiency | 0 | 1 | 0 | 5 | 0 | 6 |
| Krabbe disease due to saposin A deficiency | 0 | 3 | 0 | 3 | 0 | 6 |
| PSAP-related disorder | 0 | 0 | 3 | 0 | 0 | 3 |
| Inborn genetic diseases | 0 | 1 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 20