Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
3billion | RCV001809804 | SCV002058399 | pathogenic | Kabuki syndrome 1 | 2022-01-03 | 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_VS). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). The variant has been reported to be associated with KMT2D related disorder (ClinVar ID: VCV000638279). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |
Xiao lab, |
RCV000790857 | SCV000930029 | likely pathogenic | Lymphoma | 2019-07-25 | no assertion criteria provided | clinical testing |