Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000184493 | SCV000237137 | likely benign | not specified | 2018-01-26 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Labcorp Genetics |
RCV000227362 | SCV000286461 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-11-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002390477 | SCV002703194 | uncertain significance | Cardiovascular phenotype | 2018-04-24 | criteria provided, single submitter | clinical testing | The p.I539N variant (also known as c.1616T>A), located in coding exon 9 of the TTN gene, results from a T to A substitution at nucleotide position 1616. The isoleucine at codon 539 is replaced by asparagine, an amino acid with dissimilar properties. This amino acid position is not well 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, |
RCV003137714 | SCV003822805 | uncertain significance | not provided | 2022-08-29 | criteria provided, single submitter | clinical testing |