Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000630281 | SCV000751237 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-06-05 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001821771 | SCV002071768 | likely benign | not specified | 2021-08-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002457993 | SCV002616075 | likely benign | Hereditary cancer-predisposing syndrome | 2015-08-22 | 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. |