Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001705236 | SCV000279493 | likely benign | not provided | 2019-03-29 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000772047 | SCV000905069 | likely benign | Hereditary cancer-predisposing syndrome | 2018-04-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000943680 | SCV001089633 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-08-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000772047 | SCV002701481 | likely benign | Hereditary cancer-predisposing syndrome | 2017-11-03 | 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. |
All of Us Research Program, |
RCV003998630 | SCV004843555 | likely benign | Lynch syndrome | 2022-12-16 | criteria provided, single submitter | clinical testing |