Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000633609 | SCV000754855 | benign | Congenital contractural arachnodactyly | 2023-10-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002358774 | SCV002657592 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2018-08-09 | criteria provided, single submitter | clinical testing | The p.E2003K variant (also known as c.6007G>A), located in coding exon 47 of the FBN2 gene, results from a G to A substitution at nucleotide position 6007. The glutamic acid at codon 2003 is replaced by lysine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Department of Genetics, |
RCV001264672 | SCV001442871 | likely benign | Neurodevelopmental abnormality | 2020-04-03 | no assertion criteria provided | clinical testing |