Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001246488 | SCV001419846 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-11-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002366082 | SCV002666322 | uncertain significance | Cardiovascular phenotype | 2021-03-23 | criteria provided, single submitter | clinical testing | The p.E2270V variant (also known as c.6809A>T), located in coding exon 41 of the FLNC gene, results from an A to T substitution at nucleotide position 6809. The glutamic acid at codon 2270 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is 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. |
Revvity Omics, |
RCV003145486 | SCV003833101 | uncertain significance | not provided | 2019-06-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003145486 | SCV004036852 | uncertain significance | not provided | 2023-09-20 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function |