Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000615781 | SCV000728053 | likely benign | not specified | 2018-02-27 | 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 | RCV002315935 | SCV000738738 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2017-04-28 | criteria provided, single submitter | clinical testing | The c.2392-4A>G intronic variant results from an A to G substitution 4 nucleotides upstream from coding exon 36 in the COL5A2 gene. This nucleotide position is not well conserved in available vertebrate species. Using two different splice site prediction tools, this alteration is predicted by BDGP to weaken the efficiency of the native splice acceptor site, but is not predicted to have a deleterious effect on this splice acceptor site by ESEfinder; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV003594004 | SCV004319299 | likely benign | Ehlers-Danlos syndrome, classic type, 1 | 2023-06-15 | criteria provided, single submitter | clinical testing |