Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000167440 | SCV000218296 | likely benign | Hereditary cancer-predisposing syndrome | 2014-12-19 | 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. |
Invitae | RCV000630347 | SCV000751303 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-09-09 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000167440 | SCV001344422 | likely benign | Hereditary cancer-predisposing syndrome | 2020-04-06 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003995591 | SCV004825205 | likely benign | Lynch syndrome | 2023-09-17 | criteria provided, single submitter | clinical testing |