Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000518393 | SCV000615959 | uncertain significance | not specified | 2017-07-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002383999 | SCV002670682 | uncertain significance | Cardiovascular phenotype | 2019-12-20 | criteria provided, single submitter | clinical testing | The p.S24555T variant (also known as c.73664G>C), located in coding exon 185 of the TTN gene, results from a G to C substitution at nucleotide position 73664. The serine at codon 24555 is replaced by threonine, an amino acid with similar properties. This amino acid position is well 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, |
RCV003139721 | SCV003822937 | uncertain significance | not provided | 2020-02-10 | criteria provided, single submitter | clinical testing |