Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000799685 | SCV000939360 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002352350 | SCV002658427 | uncertain significance | Cardiovascular phenotype | 2021-06-10 | criteria provided, single submitter | clinical testing | The p.R2018C variant (also known as c.6052C>T), located in coding exon 37 of the FLNC gene, results from a C to T substitution at nucleotide position 6052. The arginine at codon 2018 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is not 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV003486931 | SCV004240666 | uncertain significance | Cardiomyopathy | 2023-05-26 | criteria provided, single submitter | clinical testing |