Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000234583 | SCV000284016 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-11-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000436256 | SCV000513625 | likely benign | not specified | 2016-08-02 | 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, |
RCV000582486 | SCV000689804 | likely benign | Hereditary cancer-predisposing syndrome | 2017-07-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000582486 | SCV001171482 | likely benign | Hereditary cancer-predisposing syndrome | 2014-12-19 | 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. |
All of Us Research Program, |
RCV003998738 | SCV004840997 | likely benign | Lynch syndrome | 2023-12-13 | criteria provided, single submitter | clinical testing |