Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001428264 | SCV001630960 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2021-05-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000908495 | SCV001889097 | likely benign | not provided | 2019-02-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002427269 | SCV002731801 | likely benign | Hereditary cancer-predisposing syndrome | 2019-04-10 | 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. |
Color Diagnostics, |
RCV002427269 | SCV004359016 | likely benign | Hereditary cancer-predisposing syndrome | 2022-08-09 | criteria provided, single submitter | clinical testing |