Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002011726 | SCV002298883 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004046669 | SCV005017780 | uncertain significance | Cardiovascular phenotype | 2024-02-01 | criteria provided, single submitter | clinical testing | The p.K1106R variant (also known as c.3317A>G), located in coding exon 21 of the FLNC gene, results from an A to G substitution at nucleotide position 3317. The lysine at codon 1106 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear. |