Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Medical Genetics and Applied Genomics, |
RCV000014150 | SCV002764240 | pathogenic | Spinocerebellar ataxia type 14 | 2022-12-16 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000014150 | SCV000034398 | pathogenic | Spinocerebellar ataxia type 14 | 2003-04-01 | no assertion criteria provided | literature only | |
Gene |
RCV000014150 | SCV000058621 | pathologic | Spinocerebellar ataxia type 14 | 2013-04-18 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |