Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000649151 | SCV000770976 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-10-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001570354 | SCV001794633 | uncertain significance | not provided | 2019-11-08 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 539417; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect |
Ambry Genetics | RCV002388127 | SCV002704761 | uncertain significance | Cardiovascular phenotype | 2022-05-12 | criteria provided, single submitter | clinical testing | The p.G505S variant (also known as c.1513G>A), located in coding exon 9 of the FLNC gene, results from a G to A substitution at nucleotide position 1513. The glycine at codon 505 is replaced by serine, an amino acid with similar properties. This variant was detected in a cardiomyopathy genetic testing cohort; however, clinical details were limited, and additional cardiac variants were detected in some cases (van Lint FHM et al. Neth Heart J, 2019 Jun;27:304-309). 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. |
Revvity Omics, |
RCV001570354 | SCV003833130 | uncertain significance | not provided | 2021-07-07 | criteria provided, single submitter | clinical testing |