Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000706225 | SCV000835264 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001772008 | SCV001993718 | uncertain significance | not provided | 2019-05-13 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Observed in 0.0087% (24/277040) of global alleles in large population cohorts (Lek et al., 2016); Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 582215; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function |
Ambry Genetics | RCV002343567 | SCV002649045 | uncertain significance | Cardiovascular phenotype | 2023-05-18 | criteria provided, single submitter | clinical testing | The p.R1811Q variant (also known as c.5432G>A), located in coding exon 33 of the FLNC gene, results from a G to A substitution at nucleotide position 5432. The arginine at codon 1811 is replaced by glutamine, an amino acid with highly 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. |
Fulgent Genetics, |
RCV002485770 | SCV002786088 | uncertain significance | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 | 2021-09-17 | criteria provided, single submitter | clinical testing |