Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000557875 | SCV000624735 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000562620 | SCV000662502 | likely benign | Hereditary cancer-predisposing syndrome | 2016-08-19 | 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, |
RCV000562620 | SCV000690248 | likely benign | Hereditary cancer-predisposing syndrome | 2016-08-13 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV002268139 | SCV002552305 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003478105 | SCV004221172 | likely benign | not provided | 2023-02-14 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004003672 | SCV004841839 | likely benign | Lynch syndrome | 2023-10-02 | criteria provided, single submitter | clinical testing |