Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001703777 | SCV000523432 | likely benign | not provided | 2019-01-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000462132 | SCV000558701 | likely benign | Colorectal cancer, susceptibility to, 10 | 2024-01-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000575946 | SCV000671051 | likely benign | Hereditary cancer-predisposing syndrome | 2015-12-31 | 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, |
RCV000575946 | SCV002534649 | benign | Hereditary cancer-predisposing syndrome | 2021-02-04 | criteria provided, single submitter | curation |