Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics | RCV001288717 | SCV001476029 | likely pathogenic | not provided | 2019-11-22 | criteria provided, single submitter | clinical testing | Not found in the total gnomAD dataset, and the data is high quality. Found in at least one patient with expected phenotype for this gene. Predicted to have a damaging effect on the protein. Assessment of experimental evidence suggests this variant results in abnormal protein function |
OMIM | RCV000014155 | SCV000034403 | pathogenic | Spinocerebellar ataxia type 14 | 2005-04-12 | no assertion criteria provided | literature only | |
Gene |
RCV000014155 | SCV000058578 | pathologic | Spinocerebellar ataxia type 14 | 2013-04-18 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |