Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000777367 | SCV000913229 | likely benign | Hereditary cancer-predisposing syndrome | 2018-01-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002061115 | SCV002427037 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2020-11-22 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004001497 | SCV004831644 | likely benign | Lynch syndrome | 2023-04-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000777367 | SCV005033754 | likely benign | Hereditary cancer-predisposing syndrome | 2023-10-02 | 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. |