Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000573752 | SCV000662324 | likely benign | Hereditary cancer-predisposing syndrome | 2017-04-26 | 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. |
Invitae | RCV000943982 | SCV001089941 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-04-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001552391 | SCV001773069 | uncertain significance | not provided | 2022-04-12 | 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 |
Revvity Omics, |
RCV001552391 | SCV003808944 | uncertain significance | not provided | 2022-06-24 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004000861 | SCV004828037 | likely benign | Lynch syndrome | 2023-10-27 | criteria provided, single submitter | clinical testing |