Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000919639 | SCV001064990 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-04-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002416138 | SCV002728233 | likely benign | Hereditary cancer-predisposing syndrome | 2021-10-11 | 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, |
RCV002416138 | SCV004359565 | likely benign | Hereditary cancer-predisposing syndrome | 2022-12-05 | criteria provided, single submitter | clinical testing |