Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000226671 | SCV000289892 | likely benign | Arrhythmogenic right ventricular dysplasia 13 | 2024-01-09 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000514836 | SCV000609848 | likely benign | not provided | 2017-03-06 | criteria provided, single submitter | clinical testing | |
Phosphorus, |
RCV000226671 | SCV000679922 | uncertain significance | Arrhythmogenic right ventricular dysplasia 13 | 2017-08-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002411056 | SCV002723641 | uncertain significance | Inborn genetic diseases | 2022-10-11 | criteria provided, single submitter | clinical testing | The p.E634K variant (also known as c.1900G>A), located in coding exon 13 of the CTNNA3 gene, results from a G to A substitution at nucleotide position 1900. The glutamic acid at codon 634 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. 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. |