Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002364620 | SCV002663169 | uncertain significance | Cardiovascular phenotype | 2021-11-14 | criteria provided, single submitter | clinical testing | The p.E2208K variant (also known as c.6622G>A), located in coding exon 40 of the FLNC gene, results from a G to A substitution at nucleotide position 6622. The glutamic acid at codon 2208 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. 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. |
Invitae | RCV003776290 | SCV004573141 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-06-23 | criteria provided, single submitter | clinical testing |