Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001898821 | SCV002174123 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2022-11-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002388804 | SCV002672689 | uncertain significance | Cardiovascular phenotype | 2022-03-17 | criteria provided, single submitter | clinical testing | The p.V2496I variant (also known as c.7486G>A), located in coding exon 45 of the FLNC gene, results from a G to A substitution at nucleotide position 7486. The valine at codon 2496 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |