Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001384407 | SCV001583883 | pathogenic | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2020-09-24 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the FLNC gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals with FLNC-related conditions. Loss-of-function variants in FLNC are known to be pathogenic (PMID: 27908349). For these reasons, this variant has been classified as Pathogenic. |