Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000457270 | SCV000559227 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-05-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000563946 | SCV000676099 | likely benign | Hereditary cancer-predisposing syndrome | 2017-02-08 | 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. |
Color Diagnostics, |
RCV000563946 | SCV001346619 | likely benign | Hereditary cancer-predisposing syndrome | 2018-11-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001672791 | SCV001889772 | benign | not provided | 2015-07-20 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002469162 | SCV002765987 | likely benign | not specified | 2022-11-05 | criteria provided, single submitter | clinical testing |