Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000199393 | SCV000250260 | likely benign | not provided | 2021-03-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000471669 | SCV000563036 | likely benign | Congenital contractural arachnodactyly | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002315588 | SCV000738980 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-04-27 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003323444 | SCV004029367 | likely benign | not specified | 2023-07-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003937724 | SCV004757851 | likely benign | FBN2-related condition | 2020-03-18 | 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). |