Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000559630 | SCV000659375 | benign | Adams-Oliver syndrome 5 | 2023-08-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001557872 | SCV001779717 | uncertain significance | not provided | 2021-12-23 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 477877; Landrum et al., 2016) |
Genome- |
RCV000559630 | SCV002553950 | uncertain significance | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270673 | SCV002553951 | uncertain significance | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002395494 | SCV002705012 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2022-11-02 | criteria provided, single submitter | clinical testing | The p.R504C variant (also known as c.1510C>T), located in coding exon 9 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 1510. The arginine at codon 504 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is poorly 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 alteration remains unclear. |