Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000200547 | SCV000253100 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-12-16 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003477653 | SCV000601539 | likely benign | not provided | 2023-06-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000569096 | SCV000662492 | likely benign | Hereditary cancer-predisposing syndrome | 2016-07-13 | 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, |
RCV000569096 | SCV000685310 | likely benign | Hereditary cancer-predisposing syndrome | 2015-11-25 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000506904 | SCV002015053 | likely benign | not specified | 2021-10-25 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000569096 | SCV002535761 | likely benign | Hereditary cancer-predisposing syndrome | 2021-12-17 | criteria provided, single submitter | curation | |
All of Us Research Program, |
RCV003996953 | SCV004838482 | likely benign | Lynch syndrome | 2023-12-13 | criteria provided, single submitter | clinical testing |