Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000572410 | SCV000669768 | likely benign | Hereditary cancer-predisposing syndrome | 2016-03-03 | 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, |
RCV000572410 | SCV000690000 | likely benign | Hereditary cancer-predisposing syndrome | 2017-09-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001439183 | SCV001642068 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2021-12-21 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004001036 | SCV004831769 | likely benign | Lynch syndrome | 2023-05-15 | criteria provided, single submitter | clinical testing |