Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000162661 | SCV000213101 | likely benign | Hereditary cancer-predisposing syndrome | 2015-12-26 | 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. |
Invitae | RCV000473253 | SCV000561520 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-04-22 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000162661 | SCV000908415 | likely benign | Hereditary cancer-predisposing syndrome | 2018-10-02 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003477580 | SCV004221217 | likely benign | not provided | 2023-06-06 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004544480 | SCV004760738 | likely benign | MSH6-related disorder | 2023-07-07 | 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, |
RCV003995210 | SCV004835033 | likely benign | Lynch syndrome | 2023-12-14 | criteria provided, single submitter | clinical testing |