Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000807277 | SCV000947321 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-12-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002424880 | SCV002731021 | uncertain significance | Cardiovascular phenotype | 2023-10-17 | criteria provided, single submitter | clinical testing | The c.2245G>A (p.V749M) alteration is located in exon 14 (coding exon 14) of the FLNC gene. This alteration results from a G to A substitution at nucleotide position 2245, causing the valine (V) at amino acid position 749 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |