Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001298922 | SCV001487993 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-08-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002366129 | SCV002666064 | uncertain significance | Cardiovascular phenotype | 2023-12-03 | criteria provided, single submitter | clinical testing | The p.T2287M variant (also known as c.6860C>T), located in coding exon 41 of the FLNC gene, results from a C to T substitution at nucleotide position 6860. The threonine at codon 2287 is replaced by methionine, 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. |