Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000010372 | SCV002517668 | pathogenic | Leber optic atrophy | 2022-05-04 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000010372 | SCV000030598 | pathogenic | Leber optic atrophy | 1991-11-01 | no assertion criteria provided | literature only | |
Gene |
RCV000010372 | SCV000086637 | not provided | Leber optic atrophy | no assertion provided | literature only | This mitochondrial DNA variant affects function. It hase been identified in at least two independent LHON pedigrees and segregates with affected disease status. |