Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000581382 | SCV000689900 | likely benign | Hereditary cancer-predisposing syndrome | 2017-03-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001476996 | SCV001681218 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-10-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001591349 | SCV001825955 | likely benign | not provided | 2020-08-10 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003935577 | SCV004752169 | likely benign | MLH1-related disorder | 2019-06-20 | 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). |
All of Us Research Program, |
RCV004002324 | SCV004822236 | likely benign | Lynch syndrome | 2024-02-05 | criteria provided, single submitter | clinical testing |