Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biomedical Innovation Departament, |
RCV001352822 | SCV001547365 | pathogenic | Epidermolysis bullosa dystrophica | 2020-02-11 | criteria provided, single submitter | research | |
Gene |
RCV002508309 | SCV002817790 | uncertain significance | not provided | 2022-06-28 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In-silico analysis is inconclusive as to whether the variant alters gene splicing; in the absence of RNA/functional studies, the actual effect of this sequence change is unknown; This variant is associated with the following publications: (PMID: 10469344) |