Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000546621 | SCV000632816 | likely benign | Juvenile polyposis syndrome | 2023-10-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002377042 | SCV002689142 | likely benign | Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome | 2020-04-03 | 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. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003478135 | SCV004220369 | likely benign | not provided | 2022-12-05 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV003584652 | SCV004362360 | likely benign | Hereditary cancer-predisposing syndrome | 2022-11-06 | criteria provided, single submitter | clinical testing |