Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001489950 | SCV001694503 | likely benign | not provided | 2021-01-12 | criteria provided, single submitter | clinical testing | |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV002243246 | SCV002512557 | uncertain significance | Chorea-acanthocytosis | 2021-07-15 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PM2 moderate |