Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000228221 | SCV000287595 | likely benign | Colorectal cancer, susceptibility to, 10 | 2023-12-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001722233 | SCV000524736 | likely benign | not provided | 2019-03-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000569798 | SCV000671084 | likely benign | Hereditary cancer-predisposing syndrome | 2015-11-11 | 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. |