Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000729536 | SCV000857207 | uncertain significance | not provided | 2017-10-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001044583 | SCV001208388 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-12-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002369990 | SCV002624419 | uncertain significance | Cardiovascular phenotype | 2024-02-22 | criteria provided, single submitter | clinical testing | The p.T1317A variant (also known as c.3949A>G), located in coding exon 22 of the FLNC gene, results from an A to G substitution at nucleotide position 3949. The threonine at codon 1317 is replaced by alanine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear. |