Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000549824 | SCV000650901 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-11-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002395436 | SCV002697415 | uncertain significance | Cardiovascular phenotype | 2024-05-23 | criteria provided, single submitter | clinical testing | The c.1426G>T (p.A476S) alteration is located in exon 9 (coding exon 9) of the FLNC gene. This alteration results from a G to T substitution at nucleotide position 1426, causing the alanine (A) at amino acid position 476 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |