Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000550199 | SCV000624706 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-01-14 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000583517 | SCV000690237 | likely benign | Hereditary cancer-predisposing syndrome | 2017-10-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000583517 | SCV002718050 | likely benign | Hereditary cancer-predisposing syndrome | 2022-04-04 | 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. |
All of Us Research Program, |
RCV004003666 | SCV004838159 | likely benign | Lynch syndrome | 2023-12-01 | criteria provided, single submitter | clinical testing |