Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001704911 | SCV000237379 | likely benign | not provided | 2020-02-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002453677 | SCV002616911 | uncertain significance | Cardiovascular phenotype | 2019-10-23 | criteria provided, single submitter | clinical testing | The p.P11465T variant (also known as c.34393C>A), located in coding exon 131 of the TTN gene, results from a C to A substitution at nucleotide position 34393. The proline at codon 11465 is replaced by threonine, an amino acid with highly similar 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003330546 | SCV004038698 | uncertain significance | not specified | 2023-08-19 | criteria provided, single submitter | clinical testing |