Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001087464 | SCV000625060 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-12-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000573364 | SCV000662095 | likely benign | Hereditary cancer-predisposing syndrome | 2017-01-18 | 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. |
Ce |
RCV000527802 | SCV001153844 | likely benign | not provided | 2019-04-01 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000573364 | SCV001358439 | likely benign | Hereditary cancer-predisposing syndrome | 2019-08-22 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003997110 | SCV004841001 | likely benign | Lynch syndrome | 2023-11-28 | criteria provided, single submitter | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV000527802 | SCV001552454 | uncertain significance | not provided | no assertion criteria provided | clinical testing |