Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001511526 | SCV001718790 | benign | Adams-Oliver syndrome 5 | 2023-10-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002350403 | SCV002653150 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2020-03-17 | 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. |
Prevention |
RCV003900243 | SCV004713300 | benign | NOTCH1-related condition | 2022-05-23 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |