Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000679984 | SCV000807418 | pathogenic | Cytochrome-c oxidase deficiency disease | 2017-09-01 | criteria provided, single submitter | clinical testing | This nonsense mutation is categorized as deleterious according to ACMG guidelines (PMID:18414213). It was found once in our laboratory homozygous in a 13-year-old female with optic atrophy & distal spasticity |