Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000575317 | SCV000662493 | likely benign | Hereditary cancer-predisposing syndrome | 2016-08-24 | 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. |
Color Diagnostics, |
RCV000575317 | SCV000690239 | likely benign | Hereditary cancer-predisposing syndrome | 2016-12-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001722529 | SCV000724270 | likely benign | not provided | 2020-02-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000630237 | SCV000751193 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000604020 | SCV001554549 | likely benign | not specified | 2021-03-18 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000604020 | SCV002047034 | likely benign | not specified | 2021-05-03 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004000877 | SCV004838225 | likely benign | Lynch syndrome | 2023-12-13 | criteria provided, single submitter | clinical testing |