Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000219796 | SCV000273096 | likely benign | Hereditary cancer-predisposing syndrome | 2015-01-16 | 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. |
Color Diagnostics, |
RCV000219796 | SCV001359184 | likely benign | Hereditary cancer-predisposing syndrome | 2019-05-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002054963 | SCV002429708 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-01-23 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003997766 | SCV004840218 | likely benign | Lynch syndrome | 2023-12-01 | criteria provided, single submitter | clinical testing |