Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000936346 | SCV001082111 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2021-08-26 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001179749 | SCV001344479 | likely benign | Hereditary cancer-predisposing syndrome | 2020-02-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001179749 | SCV004055251 | likely benign | Hereditary cancer-predisposing syndrome | 2023-06-21 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |