Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001721463 | SCV000535236 | likely benign | not provided | 2020-01-25 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 27908614, 26900293, 27028212) |
Invitae | RCV003766448 | SCV000562605 | likely benign | Familial adenomatous polyposis 1 | 2024-01-06 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000776475 | SCV000912028 | likely benign | Hereditary cancer-predisposing syndrome | 2017-12-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000776475 | SCV002636834 | likely benign | Hereditary cancer-predisposing syndrome | 2020-03-05 | 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. |