Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002311141 | SCV000320224 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2015-09-07 | 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. |
Gene |
RCV000427321 | SCV000536003 | likely benign | not specified | 2017-01-13 | 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. |
Invitae | RCV001854990 | SCV002210772 | likely benign | Congenital contractural arachnodactyly | 2022-09-19 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002278245 | SCV002566589 | likely benign | Connective tissue disorder | 2020-01-01 | criteria provided, single submitter | clinical testing |