Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000605172 | SCV000724084 | likely benign | not specified | 2017-10-24 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Ambry Genetics | RCV002315926 | SCV000739450 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2016-10-04 | 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. |
Invitae | RCV000893329 | SCV001037254 | likely benign | Adams-Oliver syndrome 5 | 2023-08-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000893329 | SCV002554333 | likely benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270800 | SCV002554334 | likely benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |