Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000616808 | SCV000730923 | likely benign | not specified | 2018-02-22 | 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 | RCV003744609 | SCV002382668 | likely benign | Familial adenomatous polyposis 1 | 2024-01-23 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002255476 | SCV002527623 | likely benign | Hereditary cancer-predisposing syndrome | 2020-08-03 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV002255476 | SCV002671305 | likely benign | Hereditary cancer-predisposing syndrome | 2022-04-29 | 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. |
Institute for Biomarker Research, |
RCV002255476 | SCV004228030 | likely benign | Hereditary cancer-predisposing syndrome | 2023-11-21 | criteria provided, single submitter | clinical testing |