Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
3billion | RCV002283964 | SCV002573232 | uncertain significance | Developmental and epileptic encephalopathy, 73 | 2022-09-01 | criteria provided, single submitter | clinical testing | The variant is not observed in the gnomAD v2.1.1 dataset. Frameshift variant is predicted to result in a loss or disruption of normal protein function through protein truncation. The predicted truncated protein may be shortened by more than 10%. However, loss-of-function of the RNF13 gene is not a fully established disease causing mechanism at this time. Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline. |