Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000564859 | SCV000670027 | likely benign | Hereditary cancer-predisposing syndrome | 2016-11-28 | 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. |
Invitae | RCV001480065 | SCV001684377 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002509448 | SCV002819426 | likely benign | not specified | 2022-12-11 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000564859 | SCV004356797 | likely benign | Hereditary cancer-predisposing syndrome | 2023-03-06 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004001059 | SCV004842015 | likely benign | Lynch syndrome | 2023-12-13 | criteria provided, single submitter | clinical testing |