Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics | RCV001288396 | SCV001475472 | likely pathogenic | not provided | 2020-04-22 | 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. |
Channelopathy- |
RCV003992489 | SCV004809256 | not provided | Severe myoclonic epilepsy in infancy | no assertion provided | literature only |