Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000569433 | SCV000662323 | likely benign | Hereditary cancer-predisposing syndrome | 2016-11-21 | 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, |
RCV000569433 | SCV001347931 | likely benign | Hereditary cancer-predisposing syndrome | 2019-04-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001439849 | SCV001642749 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001692208 | SCV001908871 | likely benign | not provided | 2021-06-02 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000569433 | SCV002534497 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-12-28 | criteria provided, single submitter | curation | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001692208 | SCV004220990 | likely benign | not provided | 2023-06-20 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004530598 | SCV004708431 | likely benign | MSH2-related disorder | 2020-11-24 | 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, |
RCV004000860 | SCV004826575 | likely benign | Lynch syndrome | 2023-10-27 | criteria provided, single submitter | clinical testing |