Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000465402 | SCV000561496 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-12-21 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV000567043 | SCV000662420 | likely benign | Hereditary cancer-predisposing syndrome | 2015-11-27 | 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 |
RCV000604490 | SCV000732144 | likely benign | not specified | 2017-02-09 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
| Color Diagnostics, |
RCV000567043 | SCV000906643 | likely benign | Hereditary cancer-predisposing syndrome | 2017-11-01 | criteria provided, single submitter | clinical testing | |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003478038 | SCV004221174 | likely benign | not provided | 2023-01-30 | criteria provided, single submitter | clinical testing | |
| All of Us Research Program, |
RCV004002166 | SCV004841972 | likely benign | Lynch syndrome | 2023-10-02 | criteria provided, single submitter | clinical testing |