Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000659961 | SCV000781869 | uncertain significance | Neurofibromatosis, type 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV000659961 | SCV002505607 | likely pathogenic | Neurofibromatosis, type 1 | 2022-04-11 | criteria provided, single submitter | clinical testing | _x000D_ Criteria applied: PM5_STR, PS4_SUP, PM2_SUP, PP2, PP3 |
Athena Diagnostics | RCV002473098 | SCV002771581 | uncertain significance | not provided | 2021-10-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002473098 | SCV003761650 | uncertain significance | not provided | 2022-07-29 | criteria provided, single submitter | clinical testing | Observed in individuals with suspected neurofibromatosis type 1 in published literature (Bianchessi et al., 2020); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32575496) |