Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000198722 | SCV000250148 | uncertain significance | not provided | 2023-10-20 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002310781 | SCV000319386 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2018-07-03 | criteria provided, single submitter | clinical testing | The p.R73S variant (also known as c.217C>A), located in coding exon 1 of the FBN2 gene, results from a C to A substitution at nucleotide position 217. The arginine at codon 73 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is not 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 variant remains unclear. |
Invitae | RCV001484140 | SCV001688550 | likely benign | Congenital contractural arachnodactyly | 2023-05-07 | criteria provided, single submitter | clinical testing |