Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001089172 | SCV000261747 | likely benign | Colorectal cancer, susceptibility to, 10 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000759938 | SCV000531173 | likely benign | not provided | 2018-05-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000572463 | SCV000670936 | likely benign | Hereditary cancer-predisposing syndrome | 2015-09-09 | 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. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000759938 | SCV000889653 | benign | not provided | 2018-05-22 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV003321544 | SCV004027001 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing |