Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000619730 | SCV000736111 | uncertain significance | Cardiovascular phenotype | 2017-11-20 | criteria provided, single submitter | clinical testing | The p.R14048W variant (also known as c.42142C>T), located in coding exon 151 of the TTN gene, results from a C to T substitution at nucleotide position 42142. The arginine at codon 14048 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Eurofins Ntd Llc |
RCV000732966 | SCV000860968 | uncertain significance | not provided | 2018-04-27 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000732966 | SCV002770560 | uncertain significance | not provided | 2021-07-17 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000732966 | SCV003821113 | uncertain significance | not provided | 2019-05-21 | criteria provided, single submitter | clinical testing |