Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001704298 | SCV000527627 | likely benign | not provided | 2018-08-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000990258 | SCV000558687 | likely benign | Colorectal cancer, susceptibility to, 10 | 2023-12-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000561424 | SCV000674285 | likely benign | Hereditary cancer-predisposing syndrome | 2015-10-09 | 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. |
Mendelics | RCV000990258 | SCV001141146 | likely benign | Colorectal cancer, susceptibility to, 10 | 2019-05-28 | criteria provided, single submitter | clinical testing |