Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000596779 | SCV000701297 | uncertain significance | not provided | 2017-02-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000596779 | SCV001786071 | likely benign | not provided | 2019-01-29 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002282251 | SCV002571832 | uncertain significance | not specified | 2022-08-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002367997 | SCV002658023 | uncertain significance | Cardiovascular phenotype | 2018-12-12 | criteria provided, single submitter | clinical testing | The p.E21185K variant (also known as c.63553G>A), located in coding exon 162 of the TTN gene, results from a G to A substitution at nucleotide position 63553. The glutamic acid at codon 21185 is replaced by lysine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and lysine 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, |
RCV000596779 | SCV003819207 | uncertain significance | not provided | 2023-08-16 | criteria provided, single submitter | clinical testing |