Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000552444 | SCV000654849 | benign | Arrhythmogenic right ventricular dysplasia 13 | 2023-12-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001770477 | SCV002004412 | likely benign | not provided | 2020-12-03 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000552444 | SCV002806490 | likely benign | Arrhythmogenic right ventricular dysplasia 13 | 2021-08-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003159927 | SCV003911600 | uncertain significance | Inborn genetic diseases | 2023-01-22 | criteria provided, single submitter | clinical testing | The p.Q260R variant (also known as c.779A>G), located in coding exon 5 of the CTNNA3 gene, results from an A to G substitution at nucleotide position 779. The glutamine at codon 260 is replaced by arginine, an amino acid with highly 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. |