Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000938808 | SCV001084632 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-11-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002346133 | SCV002648707 | uncertain significance | Cardiovascular phenotype | 2022-02-25 | criteria provided, single submitter | clinical testing | The c.5523C>T variant (also known as p.D1841D), located in coding exon 33 of the FLNC gene, results from a C to T substitution at nucleotide position 5523. This nucleotide substitution does not change the aspartic acid at codon 1841. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |