Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001978948 | SCV002218844 | benign | Adams-Oliver syndrome 5 | 2022-08-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002442917 | SCV002612538 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2022-07-07 | criteria provided, single submitter | clinical testing | The p.V1096M variant (also known as c.3286G>A), located in coding exon 20 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 3286. The valine at codon 1096 is replaced by methionine, an amino acid with highly 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. |
Gene |
RCV003154225 | SCV003842683 | uncertain significance | not provided | 2022-09-14 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |