Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000218338 | SCV000276510 | likely benign | Hereditary cancer-predisposing syndrome | 2017-10-18 | 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. |
Invitae | RCV000471178 | SCV000562197 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000218338 | SCV000911334 | likely benign | Hereditary cancer-predisposing syndrome | 2017-05-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001775691 | SCV002012515 | uncertain significance | not provided | 2022-07-21 | criteria provided, single submitter | clinical testing | Not observed at a 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 |