Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000630898 | SCV000751871 | likely benign | Fanconi anemia | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001541811 | SCV001759844 | uncertain significance | not provided | 2023-05-31 | criteria provided, single submitter | clinical testing | Observed in large population cohorts (gnomAD; internal data); In silico analysis supports that this missense variant does not alter protein structure/function; Observed in individuals with breast cancer, but also in unaffected controls (Dorling et al., 2021); This variant is associated with the following publications: (PMID: 28881617, 33471991) |
Sema4, |
RCV002255481 | SCV002529893 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-01-27 | criteria provided, single submitter | curation | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001541811 | SCV004218837 | likely benign | not provided | 2023-06-05 | criteria provided, single submitter | clinical testing |