Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000701522 | SCV000830325 | uncertain significance | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2021-08-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004026560 | SCV004871152 | uncertain significance | Cardiovascular phenotype | 2023-12-18 | criteria provided, single submitter | clinical testing | The c.2546A>G (p.N849S) alteration is located in exon 16 (coding exon 16) of the FLNC gene. This alteration results from a A to G substitution at nucleotide position 2546, causing the asparagine (N) at amino acid position 849 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |