Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000630321 | SCV000751277 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001011502 | SCV001171829 | likely benign | Hereditary cancer-predisposing syndrome | 2018-02-19 | 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. |
Gene |
RCV002264965 | SCV002546594 | uncertain significance | not provided | 2023-04-12 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge |
Color Diagnostics, |
RCV001011502 | SCV004359234 | likely benign | Hereditary cancer-predisposing syndrome | 2020-03-26 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004002801 | SCV004841004 | likely benign | Lynch syndrome | 2024-01-11 | criteria provided, single submitter | clinical testing |