Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000708540 | SCV000837650 | uncertain significance | Arrhythmogenic right ventricular dysplasia 13 | 2018-05-01 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exon 8 of the CTNNA3 gene. It preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with CTNNA3-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. 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. |