Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002251337 | SCV000237710 | uncertain significance | not provided | 2022-04-21 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002354517 | SCV002654518 | uncertain significance | Cardiovascular phenotype | 2019-12-16 | criteria provided, single submitter | clinical testing | The p.V20546M variant (also known as c.61636G>A), located in coding exon 159 of the TTN gene, results from a G to A substitution at nucleotide position 61636. The valine at codon 20546 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, |
RCV002251337 | SCV003819695 | uncertain significance | not provided | 2021-02-04 | criteria provided, single submitter | clinical testing |