Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000271735 | SCV000335596 | uncertain significance | not provided | 2015-09-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002356374 | SCV002648074 | uncertain significance | Cardiovascular phenotype | 2019-06-26 | criteria provided, single submitter | clinical testing | The p.G19372S variant (also known as c.58114G>A), located in coding exon 153 of the TTN gene, results from a G to A substitution at nucleotide position 58114. The glycine at codon 19372 is replaced by serine, an amino acid with 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, |
RCV000271735 | SCV003822848 | uncertain significance | not provided | 2019-07-12 | criteria provided, single submitter | clinical testing |