Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000538301 | SCV000624904 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-10-24 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001186968 | SCV001353591 | likely benign | Hereditary cancer-predisposing syndrome | 2019-04-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001186968 | SCV002620595 | likely benign | Hereditary cancer-predisposing syndrome | 2019-10-26 | 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. |
Prevention |
RCV004541641 | SCV004768157 | likely benign | MSH6-related disorder | 2022-11-23 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
All of Us Research Program, |
RCV004003697 | SCV004835117 | likely benign | Lynch syndrome | 2023-06-26 | criteria provided, single submitter | clinical testing |