Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001721350 | SCV000530654 | likely benign | not provided | 2019-10-07 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek 2016) |
Ambry Genetics | RCV000565877 | SCV000676148 | likely benign | Hereditary cancer-predisposing syndrome | 2017-06-13 | 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, |
RCV000565877 | SCV000911936 | likely benign | Hereditary cancer-predisposing syndrome | 2017-11-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000874081 | SCV001016207 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002271498 | SCV002556096 | likely benign | not specified | 2022-06-23 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004000493 | SCV004837726 | likely benign | Lynch syndrome | 2023-11-02 | criteria provided, single submitter | clinical testing |