Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001228218 | SCV001400606 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002339621 | SCV002642563 | uncertain significance | Cardiovascular phenotype | 2024-01-11 | criteria provided, single submitter | clinical testing | The p.I1704T variant (also known as c.5111T>C), located in coding exon 30 of the FLNC gene, results from a T to C substitution at nucleotide position 5111. The isoleucine at codon 1704 is replaced by threonine, 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. |