Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000525382 | SCV000625177 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-02-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000615509 | SCV000720814 | likely benign | not specified | 2017-06-29 | 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. |
Ambry Genetics | RCV001024300 | SCV001186288 | likely benign | Hereditary cancer-predisposing syndrome | 2018-08-14 | 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. |
Sema4, |
RCV001024300 | SCV002528753 | likely benign | Hereditary cancer-predisposing syndrome | 2022-01-12 | criteria provided, single submitter | curation | |
CHEO Genetics Diagnostic Laboratory, |
RCV003492416 | SCV004240757 | likely benign | Breast and/or ovarian cancer | 2023-06-12 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001024300 | SCV004359190 | likely benign | Hereditary cancer-predisposing syndrome | 2022-05-17 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003997134 | SCV004835300 | likely benign | Lynch syndrome | 2023-12-13 | criteria provided, single submitter | clinical testing |