Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001091100 | SCV001246955 | pathogenic | not provided | 2019-04-01 | criteria provided, single submitter | clinical testing | |
3billion | RCV000049242 | SCV002012322 | pathogenic | Adams-Oliver syndrome 4 | 2021-10-02 | 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). The variant has been reported as pathogenic/likely pathogenic without evidence for the classification (ClinVar ID: VCV000523612.1). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |
OMIM | RCV000049242 | SCV000077495 | pathogenic | Adams-Oliver syndrome 4 | 2013-04-04 | no assertion criteria provided | literature only | |
Department Of Translational Genomics |
RCV000162168 | SCV000196454 | likely pathogenic | Adams-Oliver syndrome | 2014-12-01 | no assertion criteria provided | research |