Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000167352 | SCV000218204 | likely benign | Hereditary cancer-predisposing syndrome | 2014-12-23 | 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, |
RCV000167352 | SCV001354537 | likely benign | Hereditary cancer-predisposing syndrome | 2019-02-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001408165 | SCV001610156 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2021-12-17 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003422059 | SCV004146071 | likely benign | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | MSH2: BP4, BP7 |
All of Us Research Program, |
RCV003995586 | SCV004827278 | likely benign | Lynch syndrome | 2023-05-16 | criteria provided, single submitter | clinical testing |