Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000662802 | SCV000785622 | uncertain significance | Lynch syndrome 5 | 2017-10-16 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000759839 | SCV000889449 | uncertain significance | not provided | 2017-10-03 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001180293 | SCV001345187 | likely benign | Hereditary cancer-predisposing syndrome | 2022-01-02 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV002267826 | SCV002552388 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004537270 | SCV004741199 | likely benign | MSH6-related disorder | 2019-09-16 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Laboratory for Molecular Medicine, |
RCV000074612 | SCV000204325 | not provided | Lynch syndrome | 2011-09-21 | no assertion provided | clinical testing | Outside test coverage region (UNCLASSIFED): The *20_*24del variant has not been reported or previously identified by our laboratory. This variant is located in the 3' UTR and its effect on gene expression cannot be determine at this time. Therefore, this variant is of unknown clinical significance. |