Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000466090 | SCV000548947 | benign | Adams-Oliver syndrome 5 | 2023-12-25 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV001508285 | SCV001714339 | uncertain significance | not provided | 2020-01-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001508285 | SCV001769707 | uncertain significance | not provided | 2021-06-08 | 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 (ClinVar Variant ID# 409065; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 26582918, 27535533) |
Genome- |
RCV000466090 | SCV002554001 | uncertain significance | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270502 | SCV002554002 | uncertain significance | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002348312 | SCV002643005 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2022-05-05 | criteria provided, single submitter | clinical testing | The p.R176Q variant (also known as c.527G>A), located in coding exon 4 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 527. The arginine at codon 176 is replaced by glutamine, an amino acid with highly similar properties. This variant has been detected in a bicuspid aortic valve cohort; however, details were limited (Debiec RM et al. Heart, 2022 Mar [published online ahead of print], doi:10.1136/heartjnl-2021-320428). This amino acid position is not well 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. |
John Welsh Cardiovascular Diagnostic Laboratory, |
RCV002285159 | SCV002575043 | likely benign | Pulmonary arterial hypertension | 2022-09-26 | no assertion criteria provided | clinical testing |