Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000557717 | SCV000651105 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-11-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001584315 | SCV001819381 | likely benign | not provided | 2020-11-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003302868 | SCV003998845 | uncertain significance | Cardiovascular phenotype | 2023-12-26 | criteria provided, single submitter | clinical testing | The c.6040G>A (p.V2014M) 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 6040, causing the valine (V) at amino acid position 2014 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |