Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001501296 | SCV001706103 | likely benign | Congenital contractural arachnodactyly | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003382616 | SCV004091731 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2023-07-03 | 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. |
Prevention |
RCV003908790 | SCV004724322 | likely benign | FBN2-related condition | 2022-04-27 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |