Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000164670 | SCV000215336 | likely benign | Hereditary cancer-predisposing syndrome | 2014-06-12 | 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 |
RCV000429183 | SCV000515468 | likely benign | not specified | 2016-05-26 | 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, |
RCV000164670 | SCV000690398 | likely benign | Hereditary cancer-predisposing syndrome | 2017-08-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002515143 | SCV003336009 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2022-09-06 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003995357 | SCV004835139 | likely benign | Lynch syndrome | 2023-10-06 | criteria provided, single submitter | clinical testing |