Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000439584 | SCV000534553 | likely benign | not specified | 2016-12-05 | 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. |
Invitae | RCV000471968 | SCV000551267 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-08-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000566239 | SCV000669987 | likely benign | Hereditary cancer-predisposing syndrome | 2016-05-18 | 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. |
Color Diagnostics, |
RCV000566239 | SCV000690306 | likely benign | Hereditary cancer-predisposing syndrome | 2017-09-29 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004000562 | SCV004834378 | likely benign | Lynch syndrome | 2023-05-08 | criteria provided, single submitter | clinical testing |