Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002310901 | SCV000319441 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2015-02-23 | criteria provided, single submitter | clinical testing | The p.G1360S variant (also known as c.4078G>A), located in coding exon 25 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 4078. The glycine at codon 1360 is replaced by serine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 5298 samples (10596 alleles) with coverage at this position. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear. |
Blueprint Genetics | RCV000788669 | SCV000927860 | uncertain significance | not provided | 2018-08-16 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270153 | SCV002553436 | uncertain significance | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270152 | SCV002553438 | uncertain significance | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002270153 | SCV003514769 | benign | Adams-Oliver syndrome 5 | 2023-11-16 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000788669 | SCV004162026 | uncertain significance | not provided | 2022-10-01 | criteria provided, single submitter | clinical testing | NOTCH1: PP2 |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000788669 | SCV001956235 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000788669 | SCV001964364 | uncertain significance | not provided | no assertion criteria provided | clinical testing |