Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000440479 | SCV000536262 | pathogenic | not provided | 2023-03-28 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation as the last 183 amino acids are lost, although loss-of-function variants have not been reported downstream of this position in the protein; Not observed in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge |
Mendelics | RCV002248662 | SCV002518894 | pathogenic | Familial cancer of breast | 2022-05-04 | criteria provided, single submitter | clinical testing |