Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000985298 | SCV001133328 | uncertain significance | not provided | 2019-01-11 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001177949 | SCV001342266 | likely benign | Hereditary cancer-predisposing syndrome | 2018-11-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003649171 | SCV001666287 | likely benign | Familial adenomatous polyposis 1 | 2023-08-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001177949 | SCV002623195 | likely benign | Hereditary cancer-predisposing syndrome | 2022-04-23 | 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. |