Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002311197 | SCV000320485 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2015-11-09 | criteria provided, single submitter | clinical testing | The c.*5C>T variant is located in the 3' untranslated region (3’ UTR) of the NOTCH1 gene. This variant results from a C to T substitution five bases downstream of the last translated codon. 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 6004 samples (12008 alleles) with coverage at this position. This nucleotide position is poorly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear. |
Gene |
RCV001549855 | SCV001770083 | likely benign | not provided | 2019-08-19 | criteria provided, single submitter | clinical testing |