Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratorio de Genetica e Diagnostico Molecular, |
RCV003140406 | SCV003807072 | uncertain significance | Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | 2022-04-01 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PM2 moderated |