Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000565603 | SCV000671072 | likely benign | Hereditary cancer-predisposing syndrome | 2015-08-30 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Gene |
RCV001704687 | SCV000717705 | likely benign | not provided | 2019-10-07 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek 2016); Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV000645927 | SCV000767682 | likely benign | Colorectal cancer, susceptibility to, 10 | 2024-01-29 | criteria provided, single submitter | clinical testing |