Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratorio de Genetica e Diagnostico Molecular, |
RCV002244081 | SCV002512342 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy | 2021-12-28 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PM2 moderate, BP4 supporting |