Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
3billion, |
RCV002251002 | SCV002521315 | uncertain significance | Bilateral frontoparietal polymicrogyria | 2022-05-22 | criteria provided, single submitter | clinical testing | The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: <0.001%). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.94; 3Cnet: 0.82). Therefore, this variant is classified as uncertain significanceaccording to the recommendation of ACMG/AMP guideline. |