Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000231574 | SCV000287281 | likely benign | Congenital contractural arachnodactyly | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001722229 | SCV000728430 | likely benign | not provided | 2020-12-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002315700 | SCV000738985 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2016-09-21 | 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 |
RCV003897538 | SCV004716341 | likely benign | FBN2-related condition | 2022-02-22 | 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). |