Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000217037 | SCV000273968 | likely benign | Hereditary cancer-predisposing syndrome | 2015-02-03 | 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 | RCV000226183 | SCV000283859 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000412456 | SCV000489411 | likely benign | Lynch syndrome 5 | 2016-10-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000440408 | SCV000531393 | likely benign | not specified | 2017-12-06 | 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, |
RCV000217037 | SCV000685525 | likely benign | Hereditary cancer-predisposing syndrome | 2017-06-06 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000217037 | SCV002536364 | likely benign | Hereditary cancer-predisposing syndrome | 2021-08-10 | criteria provided, single submitter | curation | |
Myriad Genetics, |
RCV000412456 | SCV004018450 | benign | Lynch syndrome 5 | 2023-03-27 | criteria provided, single submitter | clinical testing | This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing. |
All of Us Research Program, |
RCV003997835 | SCV004832366 | likely benign | Lynch syndrome | 2023-11-02 | criteria provided, single submitter | clinical testing |