Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002311183 | SCV000320396 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2015-10-04 | 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. |
Invitae | RCV001459435 | SCV001663274 | likely benign | Congenital contractural arachnodactyly | 2022-07-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001540712 | SCV001758622 | likely benign | not provided | 2019-04-23 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge |
Prevention |
RCV003930029 | SCV004743286 | likely benign | FBN2-related condition | 2019-04-10 | 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). |