Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000571791 | SCV000671216 | likely benign | Hereditary cancer-predisposing syndrome | 2017-08-31 | 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. |
Invitae | RCV000977156 | SCV001125070 | likely benign | Colorectal cancer, susceptibility to, 10 | 2023-10-04 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV003493659 | SCV004242970 | likely benign | not specified | 2024-02-06 | criteria provided, single submitter | clinical testing |