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 |
|---|---|---|---|---|---|---|
| 3 | 0 | 39 | 24 | 17 | 1 | 60 |
Condition and significance breakdown #
Total conditions: 10
| Condition | pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|
| POLG-Related Spectrum Disorders | 0 | 15 | 8 | 2 | 0 | 25 |
| Progressive sclerosing poliodystrophy | 1 | 12 | 7 | 6 | 0 | 25 |
| Fanconi anemia | 1 | 12 | 5 | 5 | 0 | 23 |
| Fanconi anemia, complementation group I | 1 | 13 | 1 | 8 | 0 | 23 |
| not provided | 0 | 8 | 5 | 8 | 0 | 20 |
| not specified | 0 | 3 | 7 | 9 | 0 | 15 |
| Progressive sclerosing poliodystrophy; Mitochondrial DNA depletion syndrome 1 (MNGIE type); Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1; Cerebellar ataxia infantile with progressive external ophthalmoplegia; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome; Mitochondrial DNA depletion syndrome 4B, MNGIE type | 0 | 2 | 1 | 0 | 0 | 3 |
| Seizures | 0 | 0 | 0 | 3 | 0 | 3 |
| Mitochondrial diseases | 0 | 0 | 0 | 2 | 0 | 2 |
| Association with valproate-induced liver toxicity | 0 | 0 | 0 | 0 | 1 | 1 |
Submitter and significance breakdown #
Total submitters: 19