Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000714080 | SCV000702885 | uncertain significance | not provided | 2016-11-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000624211 | SCV000743040 | uncertain significance | Inborn genetic diseases | 2017-11-08 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected |
Athena Diagnostics Inc | RCV000714080 | SCV000844747 | uncertain significance | not provided | 2018-03-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002331009 | SCV002630292 | uncertain significance | Cardiovascular phenotype | 2019-11-11 | criteria provided, single submitter | clinical testing | The p.T13898P variant (also known as c.41692A>C), located in coding exon 151 of the TTN gene, results from an A to C substitution at nucleotide position 41692. The threonine at codon 13898 is replaced by proline, 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, |
RCV000714080 | SCV003821026 | uncertain significance | not provided | 2022-12-21 | criteria provided, single submitter | clinical testing |