Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001241982 | SCV001415040 | uncertain significance | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-02-04 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant, c.3693_3695dup, results in the insertion of 1 amino acid(s) of the FLNC protein (p.Gly1232dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FLNC-related conditions. ClinVar contains an entry for this variant (Variation ID: 967149). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. |
Revvity Omics, |
RCV003145466 | SCV003833053 | uncertain significance | not provided | 2019-02-06 | criteria provided, single submitter | clinical testing |