Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001037813 | SCV001201245 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-04-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002400224 | SCV002706162 | uncertain significance | Cardiovascular phenotype | 2024-03-05 | criteria provided, single submitter | clinical testing | The p.R558L variant (also known as c.1673G>T), located in coding exon 10 of the FLNC gene, results from a G to T substitution at nucleotide position 1673. The arginine at codon 558 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV003145261 | SCV003833139 | uncertain significance | not provided | 2020-10-02 | criteria provided, single submitter | clinical testing |