Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000222698 | SCV000277290 | likely benign | Hereditary cancer-predisposing syndrome | 2015-07-16 | 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 | RCV000476944 | SCV000559221 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000222698 | SCV000685118 | likely benign | Hereditary cancer-predisposing syndrome | 2017-02-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001697295 | SCV000726646 | likely benign | not provided | 2019-05-08 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 19419416) |
Sema4, |
RCV000222698 | SCV002534551 | likely benign | Hereditary cancer-predisposing syndrome | 2021-07-20 | criteria provided, single submitter | curation | |
All of Us Research Program, |
RCV003998021 | SCV004830939 | likely benign | Lynch syndrome | 2023-12-18 | criteria provided, single submitter | clinical testing |