Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001215796 | SCV001387558 | likely benign | Adams-Oliver syndrome 5 | 2022-12-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003148947 | SCV003837203 | uncertain significance | not provided | 2022-09-01 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); 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 | RCV003294037 | SCV003999755 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2023-04-01 | criteria provided, single submitter | clinical testing | The p.T1006I variant (also known as c.3017C>T), located in coding exon 19 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 3017. The threonine at codon 1006 is replaced by isoleucine, an amino acid with 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. |