Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000549909 | SCV000659443 | benign | Adams-Oliver syndrome 5 | 2023-12-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001731787 | SCV001983805 | uncertain significance | not provided | 2021-10-06 | 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# 477929; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 26582918) |
Genome- |
RCV000549909 | SCV002553430 | uncertain significance | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270696 | SCV002553431 | uncertain significance | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002330986 | SCV002627561 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2020-07-22 | criteria provided, single submitter | clinical testing | The p.A1436V variant (also known as c.4307C>T), located in coding exon 25 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 4307. The alanine at codon 1436 is replaced by valine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species; however, valine is the reference amino acid in other 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. |