Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000545217 | SCV000658850 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2024-01-04 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001540217 | SCV001471491 | likely benign | not provided | 2020-06-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001540217 | SCV001758076 | likely benign | not provided | 2020-10-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000545217 | SCV002637862 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2022-09-24 | criteria provided, single submitter | clinical testing | The p.V16M variant (also known as c.46G>A), located in coding exon 1 of the TGFBR1 gene, results from a G to A substitution at nucleotide position 46. The valine at codon 16 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is conserved. 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003323614 | SCV004028890 | uncertain significance | not specified | 2023-07-21 | criteria provided, single submitter | clinical testing |