Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002077970 | SCV002324232 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-08-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002361424 | SCV002623656 | likely benign | Hereditary cancer-predisposing syndrome | 2020-10-15 | 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. |
All of Us Research Program, |
RCV004011190 | SCV004829577 | likely benign | Lynch syndrome | 2023-05-16 | criteria provided, single submitter | clinical testing |