Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002311228 | SCV000320648 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2019-07-15 | criteria provided, single submitter | clinical testing | The p.V1324M variant (also known as c.3970G>A), located in coding exon 24 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 3970. The valine at codon 1324 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is highly 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 variant remains unclear. |
Invitae | RCV000863006 | SCV001003594 | likely benign | Adams-Oliver syndrome 5 | 2023-12-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001541098 | SCV001759054 | likely benign | not provided | 2019-06-04 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001541098 | SCV003815980 | uncertain significance | not provided | 2020-03-16 | criteria provided, single submitter | clinical testing |