Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003785802 | SCV004567607 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-10-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004366515 | SCV005017817 | uncertain significance | Cardiovascular phenotype | 2024-02-01 | criteria provided, single submitter | clinical testing | The p.R2495G variant (also known as c.7483C>G), located in coding exon 45 of the FLNC gene, results from a C to G substitution at nucleotide position 7483. The arginine at codon 2495 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear. |