Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000539186 | SCV000520190 | likely benign | not provided | 2018-12-11 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 22810696) |
Invitae | RCV002521576 | SCV000647199 | likely benign | Familial adenomatous polyposis 1 | 2023-12-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000571290 | SCV000667432 | likely benign | Hereditary cancer-predisposing syndrome | 2016-10-11 | 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, |
RCV000571290 | SCV001343154 | likely benign | Hereditary cancer-predisposing syndrome | 2019-06-25 | criteria provided, single submitter | clinical testing |