Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute Of Human Genetics Munich, |
RCV000995574 | SCV001149816 | likely pathogenic | Dystonia 28, childhood-onset | 2019-06-13 | criteria provided, single submitter | clinical testing | |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV000995574 | SCV003806911 | likely pathogenic | Dystonia 28, childhood-onset | 2022-10-14 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PS4 supporting, PM1 moderated, PM2 moderated, PM6 moderated |