Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Medical Genetics, |
RCV000050140 | SCV002577593 | pathogenic | Infantile onset spinocerebellar ataxia | 2022-02-18 | criteria provided, single submitter | clinical testing | PM1, PM2, PP2, PP3, PP5 |
Revvity Omics, |
RCV003137593 | SCV003819892 | uncertain significance | not provided | 2021-05-03 | criteria provided, single submitter | clinical testing | |
Juha Muilu Group; Institute for Molecular Medicine Finland |
RCV000050140 | SCV000082550 | probable-pathogenic | Infantile onset spinocerebellar ataxia | no assertion criteria provided | not provided | Converted during submission to Likely pathogenic. |