Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001326747 | SCV001517794 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-12-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001773652 | SCV001991977 | uncertain significance | not provided | 2019-04-12 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002438750 | SCV002751769 | uncertain significance | Cardiovascular phenotype | 2023-04-17 | criteria provided, single submitter | clinical testing | The p.G948E variant (also known as c.2843G>A), located in coding exon 19 of the FLNC gene, results from a G to A substitution at nucleotide position 2843. The glycine at codon 948 is replaced by glutamic acid, 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 deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |