Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
3billion | RCV001779379 | SCV002014718 | uncertain significance | Koolen-de Vries syndrome | 2021-10-25 | criteria provided, single submitter | clinical testing | Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1). It is not observed in the gnomAD v2.1.1 dataset (PM2). Therefore, this variant is classified as likley pathogenic according to the recommendation of ACMG/AMP guideline. |