Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV002249476 | SCV002517724 | pathogenic | Cytochrome-c oxidase deficiency disease | 2022-05-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000778059 | SCV000914175 | not provided | Mitochondrial non-syndromic sensorineural hearing loss | no assertion provided | literature only |