Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003596024 | SCV000630362 | likely benign | FG syndrome | 2022-11-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003302788 | SCV004003943 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2023-05-04 | 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. |
Prevention |
RCV003985378 | SCV004717976 | likely benign | MED12-related disorder | 2021-03-31 | 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). |