Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000996987 | SCV001152020 | likely benign | not provided | 2019-03-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002445151 | SCV002682074 | likely benign | Hereditary cancer-predisposing syndrome | 2021-08-09 | 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. |
Invitae | RCV002549956 | SCV003018717 | likely benign | Colorectal cancer, susceptibility to, 10 | 2023-07-31 | criteria provided, single submitter | clinical testing |