Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000630297 | SCV000751253 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-12-04 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000774602 | SCV000908402 | likely benign | Hereditary cancer-predisposing syndrome | 2018-06-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000774602 | SCV001177279 | likely benign | Hereditary cancer-predisposing syndrome | 2016-11-29 | 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. |
Gene |
RCV001709674 | SCV001937163 | likely benign | not provided | 2021-02-03 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004002800 | SCV004840706 | likely benign | Lynch syndrome | 2023-11-02 | criteria provided, single submitter | clinical testing |