Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002315148 | SCV000739528 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2016-04-05 | 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 | RCV001488444 | SCV001692961 | likely benign | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003917985 | SCV004730711 | likely benign | PLOD1-related condition | 2019-05-01 | 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). |