Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001392076 | SCV001593709 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-07-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002350739 | SCV002645538 | likely benign | Hereditary cancer-predisposing syndrome | 2021-01-26 | 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. |
Prevention |
RCV004531202 | SCV004712251 | likely benign | MSH6-related disorder | 2020-08-06 | 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, |
RCV004006855 | SCV004829308 | likely benign | Lynch syndrome | 2023-11-28 | criteria provided, single submitter | clinical testing |