Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002314283 | SCV000738725 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2018-01-05 | criteria provided, single submitter | clinical testing | The p.R1283H variant (also known as c.3848G>A), located in coding exon 51 of the COL5A2 gene, results from a G to A substitution at nucleotide position 3848. The arginine at codon 1283 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV002233027 | SCV001556335 | likely benign | Ehlers-Danlos syndrome, classic type, 1 | 2023-08-18 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003144398 | SCV003833739 | uncertain significance | Ehlers-Danlos syndrome, classic type, 2 | 2019-02-21 | criteria provided, single submitter | clinical testing |