Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003068084 | SCV003451773 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2022-12-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004070317 | SCV005017864 | uncertain significance | Cardiovascular phenotype | 2023-12-20 | criteria provided, single submitter | clinical testing | The p.F2225L variant (also known as c.6673T>C), located in coding exon 40 of the FLNC gene, results from a T to C substitution at nucleotide position 6673. The phenylalanine at codon 2225 is replaced by leucine, an amino acid with highly 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. |