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: 18
| 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 | 20 | 3 | 7 | 0 | 29 |
| not provided | 0 | 7 | 8 | 16 | 1 | 25 |
| Nonsyndromic Hearing Loss, 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 |
| Usher syndrome type 1 | 0 | 3 | 2 | 8 | 0 | 13 |
| CDH23-Related Disorders | 0 | 10 | 1 | 0 | 0 | 11 |
| 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 |
| CDH23-related condition | 0 | 0 | 0 | 3 | 0 | 3 |
| PSAP-related condition | 0 | 0 | 3 | 0 | 0 | 3 |
| Inborn genetic diseases | 0 | 1 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 18