Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000583127 | SCV000691038 | likely benign | Hereditary cancer-predisposing syndrome | 2016-03-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000797317 | SCV000936867 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-06-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000583127 | SCV001172981 | likely benign | Hereditary cancer-predisposing syndrome | 2018-03-14 | 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. |