Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000366721 | SCV000341185 | uncertain significance | not provided | 2016-05-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000366721 | SCV001777901 | likely benign | not provided | 2019-08-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002411164 | SCV002673032 | uncertain significance | Cardiovascular phenotype | 2019-09-06 | criteria provided, single submitter | clinical testing | The p.A25996V variant (also known as c.77987C>T), located in coding exon 185 of the TTN gene, results from a C to T substitution at nucleotide position 77987. The alanine at codon 25996 is replaced by valine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and valine is the reference amino acid in other 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, |
RCV000366721 | SCV003826538 | uncertain significance | not provided | 2020-02-25 | criteria provided, single submitter | clinical testing |