Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001435493 | SCV001638317 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2018-08-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002354831 | SCV002659890 | likely benign | Hereditary cancer-predisposing syndrome | 2019-08-07 | 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. |