Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000583392 | SCV000690251 | likely benign | Hereditary cancer-predisposing syndrome | 2016-05-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000583392 | SCV001175832 | likely benign | Hereditary cancer-predisposing syndrome | 2018-03-21 | 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 | RCV001470242 | SCV001674337 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2022-09-12 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004002346 | SCV004842005 | likely benign | Lynch syndrome | 2023-04-15 | criteria provided, single submitter | clinical testing |