Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003782339 | SCV004577748 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004366574 | SCV005017711 | uncertain significance | Cardiovascular phenotype | 2024-02-16 | criteria provided, single submitter | clinical testing | The p.S1607G variant (also known as c.4819A>G), located in coding exon 28 of the FLNC gene, results from an A to G substitution at nucleotide position 4819. The serine at codon 1607 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear. |