Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CHEO Genetics Diagnostic Laboratory, |
RCV001171116 | SCV001333796 | uncertain significance | Cardiomyopathy | 2018-08-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002445408 | SCV002733706 | uncertain significance | Cardiovascular phenotype | 2022-01-12 | criteria provided, single submitter | clinical testing | The p.A803T variant (also known as c.2407G>A), located in coding exon 16 of the VCL gene, results from a G to A substitution at nucleotide position 2407. The alanine at codon 803 is replaced by threonine, 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. |
Fulgent Genetics, |
RCV002483931 | SCV002787912 | uncertain significance | Dilated cardiomyopathy 1W; Hypertrophic cardiomyopathy 15 | 2021-08-19 | criteria provided, single submitter | clinical testing |