Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000165606 | SCV000216340 | likely benign | Hereditary cancer-predisposing syndrome | 2014-09-05 | 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 | RCV001084267 | SCV000252630 | benign | Hereditary nonpolyposis colorectal neoplasms | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000411802 | SCV000488237 | likely benign | Lynch syndrome 5 | 2016-01-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000759146 | SCV000513676 | likely benign | not provided | 2019-06-18 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000165606 | SCV000685465 | likely benign | Hereditary cancer-predisposing syndrome | 2016-12-07 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV002469036 | SCV000888283 | benign | not specified | 2022-05-25 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000165606 | SCV002536297 | benign | Hereditary cancer-predisposing syndrome | 2020-11-04 | criteria provided, single submitter | curation | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002469036 | SCV002765960 | likely benign | not specified | 2022-11-03 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV000411802 | SCV004018879 | benign | Lynch syndrome 5 | 2023-03-28 | 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, |
RCV003995439 | SCV004826710 | likely benign | Lynch syndrome | 2023-11-30 | criteria provided, single submitter | clinical testing |