Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001916797 | SCV002193728 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-10-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002352586 | SCV002651731 | uncertain significance | Cardiovascular phenotype | 2021-05-17 | criteria provided, single submitter | clinical testing | The p.A1922V variant (also known as c.5765C>T), located in coding exon 35 of the FLNC gene, results from a C to T substitution at nucleotide position 5765. The alanine at codon 1922 is replaced by valine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species; however, valine is the reference amino acid in other 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV003150470 | SCV003837907 | uncertain significance | Cardiomyopathy | 2022-06-10 | criteria provided, single submitter | clinical testing |