Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000792385 | SCV000931681 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002487644 | SCV002791885 | uncertain significance | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 | 2021-09-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003307422 | SCV004006274 | uncertain significance | Cardiovascular phenotype | 2023-06-03 | criteria provided, single submitter | clinical testing | The p.R1567W variant (also known as c.4699C>T), located in coding exon 27 of the FLNC gene, results from a C to T substitution at nucleotide position 4699. The arginine at codon 1567 is replaced by tryptophan, an amino acid with dissimilar 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. |