Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000165071 | SCV000215773 | likely benign | Hereditary cancer-predisposing syndrome | 2014-07-24 | 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. |
Invitae | RCV000462163 | SCV000561536 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-08-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001697166 | SCV000716245 | likely benign | not provided | 2021-01-19 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV002267911 | SCV002552272 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000165071 | SCV004356778 | likely benign | Hereditary cancer-predisposing syndrome | 2022-02-23 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003995386 | SCV004828581 | likely benign | Lynch syndrome | 2023-08-15 | criteria provided, single submitter | clinical testing |