Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001698336 | SCV000535232 | likely benign | not provided | 2019-05-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000560824 | SCV000646585 | likely benign | Colorectal cancer, susceptibility to, 10 | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000567500 | SCV000670978 | likely benign | Hereditary cancer-predisposing syndrome | 2016-05-16 | 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. |
Sema4, |
RCV000567500 | SCV002534642 | likely benign | Hereditary cancer-predisposing syndrome | 2021-03-01 | criteria provided, single submitter | curation |