Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001904639 | SCV002124617 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2022-12-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004039712 | SCV004871162 | uncertain significance | Cardiovascular phenotype | 2023-12-16 | criteria provided, single submitter | clinical testing | The c.6190G>A (p.V2064M) alteration is located in exon 37 (coding exon 37) of the FLNC gene. This alteration results from a G to A substitution at nucleotide position 6190, causing the valine (V) at amino acid position 2064 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |