Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000700251 | SCV000828999 | 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 | RCV003163246 | SCV003859332 | uncertain significance | Cardiovascular phenotype | 2022-12-25 | criteria provided, single submitter | clinical testing | The p.V2456I variant (also known as c.7366G>A), located in coding exon 44 of the FLNC gene, results from a G to A substitution at nucleotide position 7366. The valine at codon 2456 is replaced by isoleucine, 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. |
Gene |
RCV003235361 | SCV003933347 | likely benign | not provided | 2023-04-25 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |