Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000477622 | SCV000560659 | likely benign | Aortic aneurysm, familial thoracic 7 | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002341101 | SCV002641368 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2021-01-07 | 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, |
RCV003330709 | SCV004039384 | benign | not specified | 2023-08-24 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003925364 | SCV004737738 | likely benign | MYLK-related condition | 2019-03-04 | 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). |