Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000649097 | SCV000770922 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-09-25 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003144435 | SCV003833035 | uncertain significance | not provided | 2019-09-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004025768 | SCV005017785 | uncertain significance | Cardiovascular phenotype | 2023-11-02 | criteria provided, single submitter | clinical testing | The p.E1582K variant (also known as c.4744G>A), located in coding exon 28 of the FLNC gene, results from a G to A substitution at nucleotide position 4744. The glutamic acid at codon 1582 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. 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. |