Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000571816 | SCV000670071 | likely benign | Hereditary cancer-predisposing syndrome | 2017-08-17 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Color Diagnostics, |
RCV000571816 | SCV000690247 | likely benign | Hereditary cancer-predisposing syndrome | 2016-05-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000614578 | SCV000732592 | likely benign | not specified | 2017-06-15 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV001453432 | SCV001657125 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000571816 | SCV002535710 | likely benign | Hereditary cancer-predisposing syndrome | 2021-12-09 | criteria provided, single submitter | curation | |
All of Us Research Program, |
RCV004001063 | SCV004832209 | likely benign | Lynch syndrome | 2023-05-31 | criteria provided, single submitter | clinical testing |