Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000999249 | SCV001155776 | likely pathogenic | not provided | 2019-04-01 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV003448357 | SCV004175959 | uncertain significance | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 | criteria provided, single submitter | clinical testing | Criteria applied: PM3,PM2_SUP,PP3 |