Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000774596 | SCV000908374 | likely benign | Hereditary cancer-predisposing syndrome | 2018-04-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000925368 | SCV001070903 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-12-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000774596 | SCV001172264 | likely benign | Hereditary cancer-predisposing syndrome | 2017-11-13 | 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. |
All of Us Research Program, |
RCV004001413 | SCV004839351 | likely benign | Lynch syndrome | 2023-07-22 | criteria provided, single submitter | clinical testing | |
Institute for Biomarker Research, |
RCV000774596 | SCV005045483 | likely benign | Hereditary cancer-predisposing syndrome | 2024-03-22 | criteria provided, single submitter | clinical testing |