Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000542551 | SCV000625432 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-11-17 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000777205 | SCV000912896 | likely benign | Hereditary cancer-predisposing syndrome | 2018-08-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000777205 | SCV002641866 | likely benign | Hereditary cancer-predisposing syndrome | 2019-03-05 | 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. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003478114 | SCV004221006 | likely benign | not provided | 2023-07-12 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004003752 | SCV004830355 | likely benign | Lynch syndrome | 2023-06-26 | criteria provided, single submitter | clinical testing |