Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001059891 | SCV001224545 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002436635 | SCV002751559 | uncertain significance | Cardiovascular phenotype | 2021-10-19 | criteria provided, single submitter | clinical testing | The p.N989K variant (also known as c.2967C>A), located in coding exon 20 of the FLNC gene, results from a C to A substitution at nucleotide position 2967. The asparagine at codon 989 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. 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, |
RCV003145318 | SCV003833049 | uncertain significance | not provided | 2023-01-23 | criteria provided, single submitter | clinical testing |