Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000160736 | SCV000211374 | benign | not specified | 2014-08-08 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Color Diagnostics, |
RCV000580307 | SCV000685151 | likely benign | Hereditary cancer-predisposing syndrome | 2016-07-25 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001311926 | SCV001502305 | likely benign | not provided | 2020-12-01 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV003315963 | SCV004017891 | likely benign | Lynch syndrome 5 | 2023-02-16 | criteria provided, single submitter | clinical testing | This variant is considered likely benign. Homozygosity for this variant has been confirmed in one or more individuals lacking clinical features consistent with gene-specific recessive disease, indicating that this variant is unlikely to be pathogenic. |
Center for Genomic Medicine, |
RCV000160736 | SCV004024777 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003998518 | SCV004822613 | likely benign | Lynch syndrome | 2023-12-13 | criteria provided, single submitter | clinical testing |