Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV003235603 | SCV003932892 | uncertain significance | not provided | 2022-12-15 | criteria provided, single submitter | clinical testing | Reported without a second variant in multiple individuals belonging to a single family with chorodial Vein of Galen malformations in published literature (Duran et al., 2019); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 34426522, 30578106) |
Yale Center for Mendelian Genomics, |
RCV001849633 | SCV002106544 | association | Vein of Galen aneurysmal malformation | 2018-12-18 | no assertion criteria provided | literature only |