Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000154032 | SCV000203665 | uncertain significance | not provided | 2017-08-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000154032 | SCV001770202 | likely benign | not provided | 2019-05-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002381486 | SCV002672754 | uncertain significance | Cardiovascular phenotype | 2019-01-09 | criteria provided, single submitter | clinical testing | The p.V24263M variant (also known as c.72787G>A), located in coding exon 183 of the TTN gene, results from a G to A substitution at nucleotide position 72787. The valine at codon 24263 is replaced by methionine, 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. |
Revvity Omics, |
RCV000154032 | SCV003819136 | uncertain significance | not provided | 2020-10-06 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003226218 | SCV003923246 | uncertain significance | not specified | 2023-03-06 | criteria provided, single submitter | clinical testing |