Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000544906 | SCV000651161 | 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 | |
Fulgent Genetics, |
RCV002491082 | SCV002790196 | uncertain significance | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 | 2021-12-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004024199 | SCV003526403 | uncertain significance | Cardiovascular phenotype | 2021-09-28 | criteria provided, single submitter | clinical testing | The c.7328G>A (p.R2443Q) alteration is located in exon 44 (coding exon 44) of the FLNC gene. This alteration results from a G to A substitution at nucleotide position 7328, causing the arginine (R) at amino acid position 2443 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |