Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000993521 | SCV001146560 | uncertain significance | not provided | 2019-06-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002382226 | SCV002672750 | uncertain significance | Cardiovascular phenotype | 2019-10-17 | criteria provided, single submitter | clinical testing | The p.G24254R variant (also known as c.72760G>A), located in coding exon 183 of the TTN gene, results from a G to A substitution at nucleotide position 72760. The glycine at codon 24254 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. 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. |
Revvity Omics, |
RCV000993521 | SCV003824204 | uncertain significance | not provided | 2019-08-31 | criteria provided, single submitter | clinical testing |