Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000571961 | SCV000676049 | likely benign | Hereditary cancer-predisposing syndrome | 2016-06-30 | 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, |
RCV000571961 | SCV001342528 | likely benign | Hereditary cancer-predisposing syndrome | 2018-10-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001510174 | SCV001717139 | benign | Hereditary nonpolyposis colorectal neoplasms | 2020-07-20 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000928172 | SCV002046393 | benign | not provided | 2020-11-09 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004001192 | SCV004835293 | likely benign | Lynch syndrome | 2023-11-20 | criteria provided, single submitter | clinical testing |