Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001078541 | SCV000625266 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-08-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000570348 | SCV000662306 | likely benign | Hereditary cancer-predisposing syndrome | 2016-12-21 | 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. |
Color Diagnostics, |
RCV000570348 | SCV000689988 | likely benign | Hereditary cancer-predisposing syndrome | 2016-10-03 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000679291 | SCV000805999 | likely benign | not provided | 2017-02-02 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004003735 | SCV004833374 | likely benign | Lynch syndrome | 2023-08-15 | criteria provided, single submitter | clinical testing |