Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000649144 | SCV000770969 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-06-21 | criteria provided, single submitter | clinical testing | |
Blueprint Genetics | RCV000788647 | SCV000927834 | uncertain significance | not provided | 2018-08-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000788647 | SCV002571324 | uncertain significance | not provided | 2022-03-11 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function |
Ambry Genetics | RCV002343338 | SCV002653914 | uncertain significance | Cardiovascular phenotype | 2024-03-04 | criteria provided, single submitter | clinical testing | The p.V1896M variant (also known as c.5686G>A), located in coding exon 35 of the FLNC gene, results from a G to A substitution at nucleotide position 5686. The valine at codon 1896 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is well 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. |