Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000443434 | SCV000533729 | likely benign | not provided | 2019-08-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000565820 | SCV000671178 | likely benign | Hereditary cancer-predisposing syndrome | 2016-11-23 | 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 | RCV000875969 | SCV001018468 | likely benign | Colorectal cancer, susceptibility to, 10 | 2023-11-07 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV002268057 | SCV002551962 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing |