Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000491136 | SCV000580597 | benign | Hereditary cancer-predisposing syndrome | 2022-03-10 | criteria provided, single submitter | clinical testing | This alteration is classified as 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, |
RCV000491136 | SCV000690107 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-08-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000810636 | SCV000950857 | benign | Hereditary nonpolyposis colorectal neoplasms | 2023-10-13 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004003473 | SCV004830155 | uncertain significance | Lynch syndrome | 2023-08-15 | criteria provided, single submitter | clinical testing |