Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000562352 | SCV000667247 | likely benign | Hereditary cancer-predisposing syndrome | 2015-01-03 | 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. |
Color Diagnostics, |
RCV000562352 | SCV000687064 | likely benign | Hereditary cancer-predisposing syndrome | 2017-10-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000759437 | SCV000728964 | likely benign | not provided | 2019-07-30 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016) |
Invitae | RCV003651982 | SCV000768432 | likely benign | Familial adenomatous polyposis 1 | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000759437 | SCV000888756 | likely benign | not provided | 2017-10-27 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000610300 | SCV001623419 | likely benign | not specified | 2021-05-08 | criteria provided, single submitter | clinical testing |