Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001002646 | SCV001160631 | likely benign | not specified | 2019-06-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003537385 | SCV001650059 | likely benign | Familial adenomatous polyposis 1 | 2023-09-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003307797 | SCV003996948 | likely benign | Hereditary cancer-predisposing syndrome | 2023-04-03 | 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. |