Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Human Genetics Bochum, |
RCV003887832 | SCV004704517 | likely pathogenic | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | 2023-08-22 | criteria provided, single submitter | clinical testing | ACMG criteria used to clasify this variant: PVS1, PM2_SUP |