Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratorio de Genetica e Diagnostico Molecular, |
RCV002251906 | SCV002523326 | uncertain significance | See cases | 2019-10-31 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PS4, PM2, PP3 |
OMIM | RCV000015301 | SCV000035560 | pathogenic | Mitochondrial complex 1 deficiency, nuclear type 5 | 2005-04-01 | no assertion criteria provided | literature only |