Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001296238 | SCV001485196 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-07-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002221620 | SCV002498921 | uncertain significance | not provided | 2023-08-16 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function |
Ambry Genetics | RCV002437008 | SCV002745439 | uncertain significance | Cardiovascular phenotype | 2022-03-18 | criteria provided, single submitter | clinical testing | The p.D866N variant (also known as c.2596G>A), located in coding exon 17 of the FLNC gene, results from a G to A substitution at nucleotide position 2596. The aspartic acid at codon 866 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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. |