Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000630374 | SCV000751330 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000774603 | SCV000908403 | likely benign | Hereditary cancer-predisposing syndrome | 2018-08-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000774603 | SCV001177378 | likely benign | Hereditary cancer-predisposing syndrome | 2018-03-27 | 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. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001284521 | SCV001470356 | likely benign | not provided | 2020-07-30 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004002805 | SCV004840794 | likely benign | Lynch syndrome | 2023-10-27 | criteria provided, single submitter | clinical testing |