Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002899883 | SCV003244798 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003274064 | SCV004004593 | uncertain significance | Cardiovascular phenotype | 2023-04-06 | criteria provided, single submitter | clinical testing | The c.3888G>A variant (also known as p.S1296S), located in coding exon 22 of the FLNC gene, results from a G to A substitution at nucleotide position 3888. This nucleotide substitution does not change the serine at codon 1296. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will result in the creation or strengthening of a novel splice acceptor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |