Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000988462 | SCV001138188 | pathogenic | Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Institute Of Human Genetics Munich, |
RCV000988462 | SCV002764678 | pathogenic | Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | 2020-11-10 | criteria provided, single submitter | clinical testing | |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV000988462 | SCV003807981 | likely pathogenic | Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | 2022-06-28 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PS4 moderated, PM2 moderated, PM3 moderated |
Ce |
RCV003883525 | SCV004701958 | likely pathogenic | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | ECHS1: PM3:Strong, PM2, PP3 |
OMIM | RCV000988462 | SCV001422321 | pathogenic | Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | 2021-08-12 | no assertion criteria provided | literature only |