Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000649116 | SCV000770941 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001592807 | SCV001815498 | likely benign | not provided | 2020-01-16 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar but additional evidence is not available (ClinVar Variant ID# 539388; Landrum et al., 2016) |
Ambry Genetics | RCV002325297 | SCV002610834 | uncertain significance | Cardiovascular phenotype | 2022-06-01 | criteria provided, single submitter | clinical testing | The p.G11S variant (also known as c.31G>A), located in coding exon 1 of the FLNC gene, results from a G to A substitution at nucleotide position 31. The glycine at codon 11 is replaced by serine, an amino acid with similar 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. |